Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427552del , CM000663.2:g.197427552del	GRCh38
NC_000001.10:g.197396682del , CM000663.1:g.197396682del	GRCh37
NC_000001.9:g.195663305del	NCBI36
NG_008483.1:g.164275del
NG_008483.2:g.231091del

Transcript Alleles

HGVS	Amino-acid change
ENST00000367400.8:c.2227del MANE Select	ENSP00000356370.3:p.Val743SerfsTer11
ENST00000638467.1:c.2227del	ENSP00000491102.1:p.Val743SerfsTer11
ENST00000681519.1:c.1108del	ENSP00000505267.1:p.Val370SerfsTer11
ENST00000367397.1:c.370del	ENSP00000356367.1:p.Val124SerfsTer11
ENST00000367399.6:c.1891del	ENSP00000356369.2:p.Val631SerfsTer11
ENST00000367400.7:c.2227del	ENSP00000356370.3:p.Val743SerfsTer11
ENST00000480086.2:n.128del
ENST00000484075.5:c.2227del	ENSP00000433932.1:p.Val743SerfsTer11
ENST00000535699.5:c.2020del	ENSP00000438786.1:p.Val674SerfsTer11
ENST00000538660.5:c.2128+5596del	ENSP00000438091.1:n.2128+5596del
NM_001193640.1:c.1891del	NP_001180569.1:p.Val631SerfsTer11
NM_001257965.1:c.2020del	NP_001244894.1:p.Val674SerfsTer11
NM_001257966.1:c.2128+5596del	NP_001244895.1:n.2128+5596del
NM_201253.2:c.2227del	NP_957705.1:p.Val743SerfsTer11
NR_047563.1:n.2228del
NR_047564.1:n.2436del
XM_011509365.1:c.2227del	XP_011507667.1:p.Val743SerfsTer11
XM_011509366.1:c.2227del	XP_011507668.1:p.Val743SerfsTer11
XM_011509367.1:c.2227del	XP_011507669.1:p.Val743SerfsTer11
XM_011509368.1:c.1645del	XP_011507670.1:p.Val549SerfsTer11
XM_011509369.1:c.670del	XP_011507671.1:p.Val224SerfsTer11
XM_011509365.2:c.2227del	XP_011507667.1:p.Val743SerfsTer11
XM_011509369.2:c.670del	XP_011507671.1:p.Val224SerfsTer11
XM_017000851.1:c.1384del	XP_016856340.1:p.Val462SerfsTer11
XM_017000852.1:c.2227del	XP_016856341.1:p.Val743SerfsTer11
NM_201253.3:c.2227del MANE Select	NP_957705.1:p.Val743SerfsTer11
NM_001193640.2:c.1891del	NP_001180569.1:p.Val631SerfsTer11
NM_001257965.2:c.2020del	NP_001244894.1:p.Val674SerfsTer11
NR_047563.2:n.2180del
NR_047564.2:n.2388del
NM_001257966.2:c.2128+5596del	NP_001244895.1:n.2128+5596del