Canonical Allele Identifier: CA594254682

Gene: ANK3

Linked Data

• dbSNP Id: rs1564756099
• gnomAD v2: 10-61829515-G-GGCT
• gnomAD v4: 10-60069757-G-GGCT
• MyVariant Identifiers: chr10:g.61829515_61829516insGCT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.60069765_60069767dup , CM000672.2:g.60069765_60069767dup	GRCh38
NC_000010.10:g.61829523_61829525dup , CM000672.1:g.61829523_61829525dup	GRCh37
NC_000010.9:g.61499529_61499531dup	NCBI36
NG_029917.1:g.668767_668769dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467420.7:c.4490-1751_4490-1749dup	ENSP00000423968.2:n.4490-1751_4490-1749dup
ENST00000503366.6:c.4409-1751_4409-1749dup	ENSP00000425236.1:n.4409-1751_4409-1749dup
ENST00000280772.7:c.11121_11123dup MANE Select	ENSP00000280772.1:p.Ala3708_Thr3709insAla
ENST00000280772.6:c.11121_11123dup	ENSP00000280772.1:p.Ala3708_Thr3709insAla
ENST00000355288.6:c.1808-1751_1808-1749dup	ENSP00000347436.2:n.1808-1751_1808-1749dup
ENST00000373820.5:c.182-1751_182-1749dup	ENSP00000362926.1:n.182-1751_182-1749dup
ENST00000373827.6:c.4388-1751_4388-1749dup	ENSP00000362933.2:n.4388-1751_4388-1749dup
ENST00000503366.5:c.4409-1751_4409-1749dup	ENSP00000425236.1:n.4409-1751_4409-1749dup
ENST00000511043.5:c.85-1751_85-1749dup
ENST00000610321.4:c.4041-1751_4041-1749dup
ENST00000610901.4:c.486+218_486+220dup
ENST00000613207.4:c.306+218_306+220dup
ENST00000616444.4:c.1224-1751_1224-1749dup
ENST00000618374.4:c.1808-1751_1808-1749dup	ENSP00000479018.1:n.1808-1751_1808-1749dup
ENST00000621739.1:c.2592+218_2592+220dup
NM_001149.3:c.1808-1751_1808-1749dup	NP_001140.2:n.1808-1751_1808-1749dup
NM_001204403.1:c.4388-1751_4388-1749dup	NP_001191332.1:n.4388-1751_4388-1749dup
NM_001204404.1:c.4409-1751_4409-1749dup	NP_001191333.1:n.4409-1751_4409-1749dup
NM_020987.3:c.11121_11123dup	NP_066267.2:p.Ala3708_Thr3709insAla
XM_005269715.2:c.4460-1751_4460-1749dup	XP_005269772.1:n.4460-1751_4460-1749dup
XM_005269716.2:c.4406-1751_4406-1749dup	XP_005269773.1:n.4406-1751_4406-1749dup
XM_006717791.2:c.7082-1751_7082-1749dup	XP_006717854.1:n.7082-1751_7082-1749dup
XM_006717793.2:c.7082-1751_7082-1749dup	XP_006717856.1:n.7082-1751_7082-1749dup
XM_006717795.2:c.7082-1751_7082-1749dup	XP_006717858.1:n.7082-1751_7082-1749dup
XM_006717796.2:c.7082-1751_7082-1749dup	XP_006717859.1:n.7082-1751_7082-1749dup
XM_006717802.2:c.4499-1751_4499-1749dup	XP_006717865.1:n.4499-1751_4499-1749dup
XM_011539700.1:c.7070-1751_7070-1749dup	XP_011538002.1:n.7070-1751_7070-1749dup
XM_011539701.1:c.7064-1751_7064-1749dup	XP_011538003.1:n.7064-1751_7064-1749dup
XM_011539702.1:c.7025-1751_7025-1749dup	XP_011538004.1:n.7025-1751_7025-1749dup
XM_011539703.1:c.7004-1751_7004-1749dup	XP_011538005.1:n.7004-1751_7004-1749dup
XM_011539704.1:c.6983-1751_6983-1749dup	XP_011538006.1:n.6983-1751_6983-1749dup
XM_011539705.1:c.6983-1751_6983-1749dup	XP_011538007.1:n.6983-1751_6983-1749dup
XM_011539706.1:c.6971-1751_6971-1749dup	XP_011538008.1:n.6971-1751_6971-1749dup
XM_011539707.1:c.7082-1751_7082-1749dup	XP_011538009.1:n.7082-1751_7082-1749dup
XM_011539708.1:c.7082-1751_7082-1749dup	XP_011538010.1:n.7082-1751_7082-1749dup
XM_011539709.1:c.7082-1751_7082-1749dup	XP_011538011.1:n.7082-1751_7082-1749dup
XM_011539710.1:c.4499-1751_4499-1749dup	XP_011538012.1:n.4499-1751_4499-1749dup
XM_011539711.1:c.4472-1751_4472-1749dup	XP_011538013.1:n.4472-1751_4472-1749dup
XM_011539712.1:c.4463-1751_4463-1749dup	XP_011538014.1:n.4463-1751_4463-1749dup
XM_011539713.1:c.4436-1751_4436-1749dup	XP_011538015.1:n.4436-1751_4436-1749dup
XM_011539714.1:c.4430-1751_4430-1749dup	XP_011538016.1:n.4430-1751_4430-1749dup
XM_011539715.1:c.4418-1751_4418-1749dup	XP_011538017.1:n.4418-1751_4418-1749dup
XM_011539716.1:c.4472-1751_4472-1749dup	XP_011538018.1:n.4472-1751_4472-1749dup
XM_011539717.1:c.4460-1751_4460-1749dup	XP_011538019.1:n.4460-1751_4460-1749dup
XM_011539718.1:c.4343-1751_4343-1749dup	XP_011538020.1:n.4343-1751_4343-1749dup
NM_001320874.1:c.4406-1751_4406-1749dup	NP_001307803.1:n.4406-1751_4406-1749dup
NM_020987.4:c.11121_11123dup	NP_066267.2:p.Ala3708_Thr3709insAla
XM_005269715.3:c.4460-1751_4460-1749dup	XP_005269772.1:n.4460-1751_4460-1749dup
XM_006717796.3:c.7082-1751_7082-1749dup	XP_006717859.1:n.7082-1751_7082-1749dup
XM_006717802.3:c.4499-1751_4499-1749dup	XP_006717865.1:n.4499-1751_4499-1749dup
XM_011539708.2:c.7082-1751_7082-1749dup	XP_011538010.1:n.7082-1751_7082-1749dup
XM_011539709.2:c.7082-1751_7082-1749dup	XP_011538011.1:n.7082-1751_7082-1749dup
XM_017016110.1:c.11193_11195dup	XP_016871599.1:p.Ala3732_Thr3733insAla
XM_017016111.1:c.11181_11183dup	XP_016871600.1:p.Ala3728_Thr3729insAla
XM_017016112.1:c.11178_11180dup	XP_016871601.1:p.Ala3727_Thr3728insAla
XM_017016113.1:c.11166_11168dup	XP_016871602.1:p.Ala3723_Thr3724insAla
XM_017016114.1:c.11142_11144dup	XP_016871603.1:p.Ala3715_Thr3716insAla
XM_017016115.1:c.11115_11117dup	XP_016871604.1:p.Ala3706_Thr3707insAla
XM_017016116.1:c.11193_11195dup	XP_016871605.1:p.Ala3732_Thr3733insAla
XM_017016117.1:c.11193_11195dup	XP_016871606.1:p.Ala3732_Thr3733insAla
XM_017016118.1:c.10975+218_10975+220dup	XP_016871607.1:n.10975+218_10975+220dup
XM_017016119.1:c.10975+218_10975+220dup	XP_016871608.1:n.10975+218_10975+220dup
XM_017016120.1:c.10975+218_10975+220dup	XP_016871609.1:n.10975+218_10975+220dup
XM_017016121.1:c.10948+218_10948+220dup	XP_016871610.1:n.10948+218_10948+220dup
XM_017016122.1:c.6989-1751_6989-1749dup	XP_016871611.1:n.6989-1751_6989-1749dup
XM_017016123.1:c.7082-1751_7082-1749dup	XP_016871612.1:n.7082-1751_7082-1749dup
XM_017016124.1:c.7055-1751_7055-1749dup	XP_016871613.1:n.7055-1751_7055-1749dup
XM_017016125.1:c.7055-1751_7055-1749dup	XP_016871614.1:n.7055-1751_7055-1749dup
XM_017016126.1:c.6950-1751_6950-1749dup	XP_016871615.1:n.6950-1751_6950-1749dup
XM_017016127.1:c.6923-1751_6923-1749dup	XP_016871616.1:n.6923-1751_6923-1749dup
XM_017016128.1:c.4472-1751_4472-1749dup	XP_016871617.1:n.4472-1751_4472-1749dup
XM_017016129.1:c.4472-1751_4472-1749dup	XP_016871618.1:n.4472-1751_4472-1749dup
XM_017016130.1:c.4406-1751_4406-1749dup	XP_016871619.1:n.4406-1751_4406-1749dup
XM_017016131.1:c.4391-1751_4391-1749dup	XP_016871620.1:n.4391-1751_4391-1749dup
XM_017016132.1:c.4370-1751_4370-1749dup	XP_016871621.1:n.4370-1751_4370-1749dup
XM_017016134.1:c.4340-1751_4340-1749dup	XP_016871623.1:n.4340-1751_4340-1749dup
XM_017016136.1:c.4499-1751_4499-1749dup	XP_016871625.1:n.4499-1751_4499-1749dup
XM_017016137.1:c.4472-1751_4472-1749dup	XP_016871626.1:n.4472-1751_4472-1749dup
XM_017016138.1:c.4472-1751_4472-1749dup	XP_016871627.1:n.4472-1751_4472-1749dup
XM_017016141.1:c.4367-1751_4367-1749dup	XP_016871630.1:n.4367-1751_4367-1749dup
XM_024447953.1:c.11166_11168dup	XP_024303721.1:p.Ala3723_Thr3724insAla
XM_024447954.1:c.11139_11141dup	XP_024303722.1:p.Ala3714_Thr3715insAla
XM_024447955.1:c.11130_11132dup	XP_024303723.1:p.Ala3711_Thr3712insAla
XM_024447956.1:c.11127_11129dup	XP_024303724.1:p.Ala3710_Thr3711insAla
XM_024447957.1:c.11094_11096dup	XP_024303725.1:p.Ala3699_Thr3700insAla
XM_024447958.1:c.11076_11078dup	XP_024303726.1:p.Ala3693_Thr3694insAla
XM_024447959.1:c.11076_11078dup	XP_024303727.1:p.Ala3693_Thr3694insAla
XM_024447960.1:c.11064_11066dup	XP_024303728.1:p.Ala3689_Thr3690insAla
XM_024447961.1:c.11061_11063dup	XP_024303729.1:p.Ala3688_Thr3689insAla
XM_024447962.1:c.10948+218_10948+220dup	XP_024303730.1:n.10948+218_10948+220dup
XM_024447963.1:c.7082-1751_7082-1749dup	XP_024303731.1:n.7082-1751_7082-1749dup
XM_024447964.1:c.4436-1751_4436-1749dup	XP_024303732.1:n.4436-1751_4436-1749dup
XM_024447965.1:c.4463-1751_4463-1749dup	XP_024303733.1:n.4463-1751_4463-1749dup
NM_020987.5:c.11121_11123dup MANE Select	NP_066267.2:p.Ala3708_Thr3709insAla
NM_001204403.2:c.4388-1751_4388-1749dup	NP_001191332.1:n.4388-1751_4388-1749dup
NM_001204404.2:c.4409-1751_4409-1749dup	NP_001191333.1:n.4409-1751_4409-1749dup
NM_001320874.2:c.4406-1751_4406-1749dup	NP_001307803.1:n.4406-1751_4406-1749dup
NM_001149.4:c.1808-1751_1808-1749dup	NP_001140.2:n.1808-1751_1808-1749dup