Canonical Allele Identifier: CA2609276170

Gene: ANK3

Linked Data

• gnomAD v4: 10-60069595-CATTGTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.60069598_60069603del , CM000672.2:g.60069598_60069603del	GRCh38
NC_000010.10:g.61829356_61829361del , CM000672.1:g.61829356_61829361del	GRCh37
NC_000010.9:g.61499362_61499367del	NCBI36
NG_029917.1:g.668926_668931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000467420.7:c.4490-1592_4490-1587del	ENSP00000423968.2:n.4490-1592_4490-1587del
ENST00000503366.6:c.4409-1592_4409-1587del	ENSP00000425236.1:n.4409-1592_4409-1587del
ENST00000280772.7:c.11280_11285del MANE Select	ENSP00000280772.1:p.Ile3760_Thr3761del
ENST00000280772.6:c.11280_11285del	ENSP00000280772.1:p.Ile3760_Thr3761del
ENST00000355288.6:c.1808-1592_1808-1587del	ENSP00000347436.2:n.1808-1592_1808-1587del
ENST00000373820.5:c.182-1592_182-1587del	ENSP00000362926.1:n.182-1592_182-1587del
ENST00000373827.6:c.4388-1592_4388-1587del	ENSP00000362933.2:n.4388-1592_4388-1587del
ENST00000503366.5:c.4409-1592_4409-1587del	ENSP00000425236.1:n.4409-1592_4409-1587del
ENST00000511043.5:c.85-1592_85-1587del
ENST00000610321.4:c.4041-1592_4041-1587del
ENST00000610901.4:c.486+377_486+382del
ENST00000613207.4:c.306+377_306+382del
ENST00000616444.4:c.1224-1592_1224-1587del
ENST00000618374.4:c.1808-1592_1808-1587del	ENSP00000479018.1:n.1808-1592_1808-1587del
ENST00000621739.1:c.2592+377_2592+382del
NM_001149.3:c.1808-1592_1808-1587del	NP_001140.2:n.1808-1592_1808-1587del
NM_001204403.1:c.4388-1592_4388-1587del	NP_001191332.1:n.4388-1592_4388-1587del
NM_001204404.1:c.4409-1592_4409-1587del	NP_001191333.1:n.4409-1592_4409-1587del
NM_020987.3:c.11280_11285del	NP_066267.2:p.Ile3760_Thr3761del
XM_005269715.2:c.4460-1592_4460-1587del	XP_005269772.1:n.4460-1592_4460-1587del
XM_005269716.2:c.4406-1592_4406-1587del	XP_005269773.1:n.4406-1592_4406-1587del
XM_006717791.2:c.7082-1592_7082-1587del	XP_006717854.1:n.7082-1592_7082-1587del
XM_006717793.2:c.7082-1592_7082-1587del	XP_006717856.1:n.7082-1592_7082-1587del
XM_006717795.2:c.7082-1592_7082-1587del	XP_006717858.1:n.7082-1592_7082-1587del
XM_006717796.2:c.7082-1592_7082-1587del	XP_006717859.1:n.7082-1592_7082-1587del
XM_006717802.2:c.4499-1592_4499-1587del	XP_006717865.1:n.4499-1592_4499-1587del
XM_011539700.1:c.7070-1592_7070-1587del	XP_011538002.1:n.7070-1592_7070-1587del
XM_011539701.1:c.7064-1592_7064-1587del	XP_011538003.1:n.7064-1592_7064-1587del
XM_011539702.1:c.7025-1592_7025-1587del	XP_011538004.1:n.7025-1592_7025-1587del
XM_011539703.1:c.7004-1592_7004-1587del	XP_011538005.1:n.7004-1592_7004-1587del
XM_011539704.1:c.6983-1592_6983-1587del	XP_011538006.1:n.6983-1592_6983-1587del
XM_011539705.1:c.6983-1592_6983-1587del	XP_011538007.1:n.6983-1592_6983-1587del
XM_011539706.1:c.6971-1592_6971-1587del	XP_011538008.1:n.6971-1592_6971-1587del
XM_011539707.1:c.7082-1592_7082-1587del	XP_011538009.1:n.7082-1592_7082-1587del
XM_011539708.1:c.7082-1592_7082-1587del	XP_011538010.1:n.7082-1592_7082-1587del
XM_011539709.1:c.7082-1592_7082-1587del	XP_011538011.1:n.7082-1592_7082-1587del
XM_011539710.1:c.4499-1592_4499-1587del	XP_011538012.1:n.4499-1592_4499-1587del
XM_011539711.1:c.4472-1592_4472-1587del	XP_011538013.1:n.4472-1592_4472-1587del
XM_011539712.1:c.4463-1592_4463-1587del	XP_011538014.1:n.4463-1592_4463-1587del
XM_011539713.1:c.4436-1592_4436-1587del	XP_011538015.1:n.4436-1592_4436-1587del
XM_011539714.1:c.4430-1592_4430-1587del	XP_011538016.1:n.4430-1592_4430-1587del
XM_011539715.1:c.4418-1592_4418-1587del	XP_011538017.1:n.4418-1592_4418-1587del
XM_011539716.1:c.4472-1592_4472-1587del	XP_011538018.1:n.4472-1592_4472-1587del
XM_011539717.1:c.4460-1592_4460-1587del	XP_011538019.1:n.4460-1592_4460-1587del
XM_011539718.1:c.4343-1592_4343-1587del	XP_011538020.1:n.4343-1592_4343-1587del
NM_001320874.1:c.4406-1592_4406-1587del	NP_001307803.1:n.4406-1592_4406-1587del
NM_020987.4:c.11280_11285del	NP_066267.2:p.Ile3760_Thr3761del
XM_005269715.3:c.4460-1592_4460-1587del	XP_005269772.1:n.4460-1592_4460-1587del
XM_006717796.3:c.7082-1592_7082-1587del	XP_006717859.1:n.7082-1592_7082-1587del
XM_006717802.3:c.4499-1592_4499-1587del	XP_006717865.1:n.4499-1592_4499-1587del
XM_011539708.2:c.7082-1592_7082-1587del	XP_011538010.1:n.7082-1592_7082-1587del
XM_011539709.2:c.7082-1592_7082-1587del	XP_011538011.1:n.7082-1592_7082-1587del
XM_017016110.1:c.11352_11357del	XP_016871599.1:p.Ile3784_Thr3785del
XM_017016111.1:c.11340_11345del	XP_016871600.1:p.Ile3780_Thr3781del
XM_017016112.1:c.11337_11342del	XP_016871601.1:p.Ile3779_Thr3780del
XM_017016113.1:c.11325_11330del	XP_016871602.1:p.Ile3775_Thr3776del
XM_017016114.1:c.11301_11306del	XP_016871603.1:p.Ile3767_Thr3768del
XM_017016115.1:c.11274_11279del	XP_016871604.1:p.Ile3758_Thr3759del
XM_017016116.1:c.11352_11357del	XP_016871605.1:p.Ile3784_Thr3785del
XM_017016117.1:c.11352_11357del	XP_016871606.1:p.Ile3784_Thr3785del
XM_017016118.1:c.10975+377_10975+382del	XP_016871607.1:n.10975+377_10975+382del
XM_017016119.1:c.10975+377_10975+382del	XP_016871608.1:n.10975+377_10975+382del
XM_017016120.1:c.10975+377_10975+382del	XP_016871609.1:n.10975+377_10975+382del
XM_017016121.1:c.10948+377_10948+382del	XP_016871610.1:n.10948+377_10948+382del
XM_017016122.1:c.6989-1592_6989-1587del	XP_016871611.1:n.6989-1592_6989-1587del
XM_017016123.1:c.7082-1592_7082-1587del	XP_016871612.1:n.7082-1592_7082-1587del
XM_017016124.1:c.7055-1592_7055-1587del	XP_016871613.1:n.7055-1592_7055-1587del
XM_017016125.1:c.7055-1592_7055-1587del	XP_016871614.1:n.7055-1592_7055-1587del
XM_017016126.1:c.6950-1592_6950-1587del	XP_016871615.1:n.6950-1592_6950-1587del
XM_017016127.1:c.6923-1592_6923-1587del	XP_016871616.1:n.6923-1592_6923-1587del
XM_017016128.1:c.4472-1592_4472-1587del	XP_016871617.1:n.4472-1592_4472-1587del
XM_017016129.1:c.4472-1592_4472-1587del	XP_016871618.1:n.4472-1592_4472-1587del
XM_017016130.1:c.4406-1592_4406-1587del	XP_016871619.1:n.4406-1592_4406-1587del
XM_017016131.1:c.4391-1592_4391-1587del	XP_016871620.1:n.4391-1592_4391-1587del
XM_017016132.1:c.4370-1592_4370-1587del	XP_016871621.1:n.4370-1592_4370-1587del
XM_017016134.1:c.4340-1592_4340-1587del	XP_016871623.1:n.4340-1592_4340-1587del
XM_017016136.1:c.4499-1592_4499-1587del	XP_016871625.1:n.4499-1592_4499-1587del
XM_017016137.1:c.4472-1592_4472-1587del	XP_016871626.1:n.4472-1592_4472-1587del
XM_017016138.1:c.4472-1592_4472-1587del	XP_016871627.1:n.4472-1592_4472-1587del
XM_017016141.1:c.4367-1592_4367-1587del	XP_016871630.1:n.4367-1592_4367-1587del
XM_024447953.1:c.11325_11330del	XP_024303721.1:p.Ile3775_Thr3776del
XM_024447954.1:c.11298_11303del	XP_024303722.1:p.Ile3766_Thr3767del
XM_024447955.1:c.11289_11294del	XP_024303723.1:p.Ile3763_Thr3764del
XM_024447956.1:c.11286_11291del	XP_024303724.1:p.Ile3762_Thr3763del
XM_024447957.1:c.11253_11258del	XP_024303725.1:p.Ile3751_Thr3752del
XM_024447958.1:c.11235_11240del	XP_024303726.1:p.Ile3745_Thr3746del
XM_024447959.1:c.11235_11240del	XP_024303727.1:p.Ile3745_Thr3746del
XM_024447960.1:c.11223_11228del	XP_024303728.1:p.Ile3741_Thr3742del
XM_024447961.1:c.11220_11225del	XP_024303729.1:p.Ile3740_Thr3741del
XM_024447962.1:c.10948+377_10948+382del	XP_024303730.1:n.10948+377_10948+382del
XM_024447963.1:c.7082-1592_7082-1587del	XP_024303731.1:n.7082-1592_7082-1587del
XM_024447964.1:c.4436-1592_4436-1587del	XP_024303732.1:n.4436-1592_4436-1587del
XM_024447965.1:c.4463-1592_4463-1587del	XP_024303733.1:n.4463-1592_4463-1587del
NM_020987.5:c.11280_11285del MANE Select	NP_066267.2:p.Ile3760_Thr3761del
NM_001204403.2:c.4388-1592_4388-1587del	NP_001191332.1:n.4388-1592_4388-1587del
NM_001204404.2:c.4409-1592_4409-1587del	NP_001191333.1:n.4409-1592_4409-1587del
NM_001320874.2:c.4406-1592_4406-1587del	NP_001307803.1:n.4406-1592_4406-1587del
NM_001149.4:c.1808-1592_1808-1587del	NP_001140.2:n.1808-1592_1808-1587del