Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156508481_156508482insTTTTTTTTTTT , CM000667.2:g.156508481_156508482insTTTTTTTTTTT	GRCh38
NC_000005.9:g.155935491_155935492insTTTTTTTTTTT , CM000667.1:g.155935491_155935492insTTTTTTTTTTT	GRCh37
NC_000005.8:g.155868069_155868070insTTTTTTTTTTT	NCBI36
NG_008693.2:g.643138_643139insTTTTTTTTTTT , LRG_205:g.643138_643139insTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.193-120_193-119insTTTTTTTTTTT MANE Select	ENSP00000338343.4:n.193-120_193-119insTTTTTTTTTTT
ENST00000337851.8:c.193-120_193-119insTTTTTTTTTTT	ENSP00000338343.4:n.193-120_193-119insTTTTTTTTTTT
ENST00000435422.7:c.190-120_190-119insTTTTTTTTTTT	ENSP00000403003.2:n.190-120_190-119insTTTTTTTTTTT
ENST00000517913.5:c.193-120_193-119insTTTTTTTTTTT	ENSP00000429378.1:n.193-120_193-119insTTTTTTTTTTT
ENST00000524347.2:c.57-120_57-119insTTTTTTTTTTT	ENSP00000430794.1:n.57-120_57-119insTTTTTTTTTTT
NM_000337.5:c.193-120_193-119insTTTTTTTTTTT , LRG_205t1:c.193-120_193-119insTTTTTTTTTTT	NP_000328.2:n.193-120_193-119insTTTTTTTTTTT
NM_001128209.1:c.190-120_190-119insTTTTTTTTTTT	NP_001121681.1:n.190-120_190-119insTTTTTTTTTTT
NM_172244.2:c.193-120_193-119insTTTTTTTTTTT	NP_758447.1:n.193-120_193-119insTTTTTTTTTTT
XM_005265966.3:c.193-120_193-119insTTTTTTTTTTT	XP_005266023.1:n.193-120_193-119insTTTTTTTTTTT
XM_005265967.1:c.193-120_193-119insTTTTTTTTTTT	XP_005266024.1:n.193-120_193-119insTTTTTTTTTTT
XM_006714911.2:c.193-120_193-119insTTTTTTTTTTT	XP_006714974.1:n.193-120_193-119insTTTTTTTTTTT
XM_011534621.1:c.190-120_190-119insTTTTTTTTTTT	XP_011532923.1:n.190-120_190-119insTTTTTTTTTTT
XM_005265966.5:c.193-120_193-119insTTTTTTTTTTT	XP_005266023.1:n.193-120_193-119insTTTTTTTTTTT
XM_005265967.2:c.193-120_193-119insTTTTTTTTTTT	XP_005266024.1:n.193-120_193-119insTTTTTTTTTTT
XM_011534621.2:c.190-120_190-119insTTTTTTTTTTT	XP_011532923.1:n.190-120_190-119insTTTTTTTTTTT
XM_017009723.2:c.193-120_193-119insTTTTTTTTTTT	XP_016865212.1:n.193-120_193-119insTTTTTTTTTTT
XM_017009724.1:c.193-120_193-119insTTTTTTTTTTT	XP_016865213.1:n.193-120_193-119insTTTTTTTTTTT
NM_001128209.2:c.190-120_190-119insTTTTTTTTTTT	NP_001121681.1:n.190-120_190-119insTTTTTTTTTTT
NM_172244.3:c.193-120_193-119insTTTTTTTTTTT	NP_758447.1:n.193-120_193-119insTTTTTTTTTTT
NM_000337.6:c.193-120_193-119insTTTTTTTTTTT MANE Select	NP_000328.2:n.193-120_193-119insTTTTTTTTTTT