Canonical Allele Identifier: CA2574645125

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100990474_100990475dup , CM000672.2:g.100990474_100990475dup	GRCh38
NC_000010.10:g.102750231_102750232dup , CM000672.1:g.102750231_102750232dup	GRCh37
NC_000010.9:g.102740221_102740222dup	NCBI36
NG_011646.1:g.2042_2043dup
NG_012624.1:g.7939_7940dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000311916.8:c.1523_1524dup MANE Select	ENSP00000309595.2:p.Asp509MetfsTer6
ENST00000370228.2:c.1523_1524dup	ENSP00000359248.1:p.Asp509MetfsTer6
ENST00000643860.1:c.1523_1524dup	ENSP00000494389.1:p.Asp509MetfsTer6
ENST00000646226.1:n.338_339dup
ENST00000647109.1:c.182_183dup
ENST00000650396.1:c.484_485dup
ENST00000311916.6:c.1523_1524dup	ENSP00000309595.2:p.Asp509MetfsTer6
ENST00000370228.1:c.1523_1524dup	ENSP00000359248.1:p.Asp509MetfsTer6
ENST00000473656.5:n.344_345dup
ENST00000476766.5:n.409_410dup
NM_001163812.1:c.1523_1524dup	NP_001157284.1:p.Asp509MetfsTer6
NM_001163813.1:c.161_162dup	NP_001157285.1:p.Asp55MetfsTer6
NM_001163814.1:c.161_162dup	NP_001157286.1:p.Asp55MetfsTer6
NM_021830.4:c.1523_1524dup	NP_068602.2:p.Asp509MetfsTer6
XM_011539974.1:c.161_162dup	XP_011538276.1:p.Asp55MetfsTer6
XM_011539975.1:c.161_162dup	XP_011538277.1:p.Asp55MetfsTer6
XR_945788.1:n.2294_2295dup
XM_011539975.2:c.161_162dup	XP_011538277.1:p.Asp55MetfsTer6
XM_017016437.1:c.161_162dup	XP_016871926.1:p.Asp55MetfsTer6
XR_001747142.1:n.1697_1698dup
XR_001747144.1:n.1635_1636dup
XR_002956991.1:n.1635_1636dup
XR_945788.2:n.1635_1636dup
NM_021830.5:c.1523_1524dup MANE Select	NP_068602.2:p.Asp509MetfsTer6
NM_001163812.2:c.1523_1524dup	NP_001157284.1:p.Asp509MetfsTer6
NM_001163813.2:c.161_162dup	NP_001157285.1:p.Asp55MetfsTer6
NM_001163814.2:c.161_162dup	NP_001157286.1:p.Asp55MetfsTer6
NM_001368275.1:c.161_162dup	NP_001355204.1:p.Asp55MetfsTer6
NR_160738.1:n.2191_2192dup
NR_160739.1:n.351_352dup
NR_160740.1:n.2129_2130dup
NR_160741.1:n.2129_2130dup
NR_160742.1:n.2129_2130dup