Canonical Allele Identifier: CA1139532809

Gene: TWNK

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.100988952_100988955del , CM000672.2:g.100988952_100988955del	GRCh38
NC_000010.10:g.102748709_102748712del , CM000672.1:g.102748709_102748712del	GRCh37
NC_000010.9:g.102738699_102738702del	NCBI36
NG_011646.1:g.3563_3566del
NG_012624.1:g.6417_6420del

Transcript Alleles

HGVS	Amino-acid change
ENST00000311916.8:c.742_745del MANE Select	ENSP00000309595.2:p.Phe248AspfsTer4
ENST00000370228.2:c.742_745del	ENSP00000359248.1:p.Phe248AspfsTer4
ENST00000643860.1:c.742_745del	ENSP00000494389.1:p.Phe248AspfsTer4
ENST00000646226.1:n.59-692_59-689del
ENST00000311916.6:c.742_745del	ENSP00000309595.2:p.Phe248AspfsTer4
ENST00000370228.1:c.742_745del	ENSP00000359248.1:p.Phe248AspfsTer4
ENST00000459764.1:n.87-692_87-689del
ENST00000473656.5:n.65-692_65-689del
ENST00000476766.5:n.192-754_192-751del
NM_001163812.1:c.742_745del	NP_001157284.1:p.Phe248AspfsTer4
NM_001163813.1:c.-119-692_-119-689del	NP_001157285.1:n.-119-692_-119-689del
NM_001163814.1:c.-119-692_-119-689del	NP_001157286.1:n.-119-692_-119-689del
NM_021830.4:c.742_745del	NP_068602.2:p.Phe248AspfsTer4
XM_011539975.1:c.-57-754_-57-751del	XP_011538277.1:n.-57-754_-57-751del
XR_945788.1:n.1575_1578del
XM_011539975.2:c.-57-754_-57-751del	XP_011538277.1:n.-57-754_-57-751del
XM_017016437.1:c.-559_-556del	XP_016871926.1:n.-559_-556del
XR_001747142.1:n.916_919del
XR_001747144.1:n.916_919del
XR_002956991.1:n.916_919del
XR_945788.2:n.916_919del
NM_021830.5:c.742_745del MANE Select	NP_068602.2:p.Phe248AspfsTer4
NM_001163812.2:c.742_745del	NP_001157284.1:p.Phe248AspfsTer4
NM_001163813.2:c.-119-692_-119-689del	NP_001157285.1:n.-119-692_-119-689del
NM_001163814.2:c.-119-692_-119-689del	NP_001157286.1:n.-119-692_-119-689del
NM_001368275.1:c.-57-754_-57-751del	NP_001355204.1:n.-57-754_-57-751del
NR_160738.1:n.1410_1413del
NR_160739.1:n.72-692_72-689del
NR_160740.1:n.1410_1413del
NR_160741.1:n.1410_1413del
NR_160742.1:n.1410_1413del