Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156508478_156508479insTTTTTTTT , CM000667.2:g.156508478_156508479insTTTTTTTT	GRCh38
NC_000005.9:g.155935488_155935489insTTTTTTTT , CM000667.1:g.155935488_155935489insTTTTTTTT	GRCh37
NC_000005.8:g.155868066_155868067insTTTTTTTT	NCBI36
NG_008693.2:g.643135_643136insTTTTTTTT , LRG_205:g.643135_643136insTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.193-123_193-122insTTTTTTTT MANE Select	ENSP00000338343.4:n.193-123_193-122insTTTTTTTT
ENST00000337851.8:c.193-123_193-122insTTTTTTTT	ENSP00000338343.4:n.193-123_193-122insTTTTTTTT
ENST00000435422.7:c.190-123_190-122insTTTTTTTT	ENSP00000403003.2:n.190-123_190-122insTTTTTTTT
ENST00000517913.5:c.193-123_193-122insTTTTTTTT	ENSP00000429378.1:n.193-123_193-122insTTTTTTTT
ENST00000524347.2:c.57-123_57-122insTTTTTTTT	ENSP00000430794.1:n.57-123_57-122insTTTTTTTT
NM_000337.5:c.193-123_193-122insTTTTTTTT , LRG_205t1:c.193-123_193-122insTTTTTTTT	NP_000328.2:n.193-123_193-122insTTTTTTTT
NM_001128209.1:c.190-123_190-122insTTTTTTTT	NP_001121681.1:n.190-123_190-122insTTTTTTTT
NM_172244.2:c.193-123_193-122insTTTTTTTT	NP_758447.1:n.193-123_193-122insTTTTTTTT
XM_005265966.3:c.193-123_193-122insTTTTTTTT	XP_005266023.1:n.193-123_193-122insTTTTTTTT
XM_005265967.1:c.193-123_193-122insTTTTTTTT	XP_005266024.1:n.193-123_193-122insTTTTTTTT
XM_006714911.2:c.193-123_193-122insTTTTTTTT	XP_006714974.1:n.193-123_193-122insTTTTTTTT
XM_011534621.1:c.190-123_190-122insTTTTTTTT	XP_011532923.1:n.190-123_190-122insTTTTTTTT
XM_005265966.5:c.193-123_193-122insTTTTTTTT	XP_005266023.1:n.193-123_193-122insTTTTTTTT
XM_005265967.2:c.193-123_193-122insTTTTTTTT	XP_005266024.1:n.193-123_193-122insTTTTTTTT
XM_011534621.2:c.190-123_190-122insTTTTTTTT	XP_011532923.1:n.190-123_190-122insTTTTTTTT
XM_017009723.2:c.193-123_193-122insTTTTTTTT	XP_016865212.1:n.193-123_193-122insTTTTTTTT
XM_017009724.1:c.193-123_193-122insTTTTTTTT	XP_016865213.1:n.193-123_193-122insTTTTTTTT
NM_001128209.2:c.190-123_190-122insTTTTTTTT	NP_001121681.1:n.190-123_190-122insTTTTTTTT
NM_172244.3:c.193-123_193-122insTTTTTTTT	NP_758447.1:n.193-123_193-122insTTTTTTTT
NM_000337.6:c.193-123_193-122insTTTTTTTT MANE Select	NP_000328.2:n.193-123_193-122insTTTTTTTT