Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156508483_156508484insGTGGTTGTTTGTTTGTTTTG , CM000667.2:g.156508483_156508484insGTGGTTGTTTGTTTGTTTTG	GRCh38
NC_000005.9:g.155935493_155935494insGTGGTTGTTTGTTTGTTTTG , CM000667.1:g.155935493_155935494insGTGGTTGTTTGTTTGTTTTG	GRCh37
NC_000005.8:g.155868071_155868072insGTGGTTGTTTGTTTGTTTTG	NCBI36
NG_008693.2:g.643140_643141insGTGGTTGTTTGTTTGTTTTG , LRG_205:g.643140_643141insGTGGTTGTTTGTTTGTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.193-118_193-117insGTGGTTGTTTGTTTGTTTTG MANE Select	ENSP00000338343.4:n.193-118_193-117insGTGGTTGTTTGTTTGTTTTG
ENST00000337851.8:c.193-118_193-117insGTGGTTGTTTGTTTGTTTTG	ENSP00000338343.4:n.193-118_193-117insGTGGTTGTTTGTTTGTTTTG
ENST00000435422.7:c.190-118_190-117insGTGGTTGTTTGTTTGTTTTG	ENSP00000403003.2:n.190-118_190-117insGTGGTTGTTTGTTTGTTTTG
ENST00000517913.5:c.193-118_193-117insGTGGTTGTTTGTTTGTTTTG	ENSP00000429378.1:n.193-118_193-117insGTGGTTGTTTGTTTGTTTTG
ENST00000524347.2:c.57-118_57-117insGTGGTTGTTTGTTTGTTTTG	ENSP00000430794.1:n.57-118_57-117insGTGGTTGTTTGTTTGTTTTG
NM_000337.5:c.193-118_193-117insGTGGTTGTTTGTTTGTTTTG , LRG_205t1:c.193-118_193-117insGTGGTTGTTTGTTTGTTTTG	NP_000328.2:n.193-118_193-117insGTGGTTGTTTGTTTGTTTTG
NM_001128209.1:c.190-118_190-117insGTGGTTGTTTGTTTGTTTTG	NP_001121681.1:n.190-118_190-117insGTGGTTGTTTGTTTGTTTTG
NM_172244.2:c.193-118_193-117insGTGGTTGTTTGTTTGTTTTG	NP_758447.1:n.193-118_193-117insGTGGTTGTTTGTTTGTTTTG
XM_005265966.3:c.193-118_193-117insGTGGTTGTTTGTTTGTTTTG	XP_005266023.1:n.193-118_193-117insGTGGTTGTTTGTTTGTTTTG
XM_005265967.1:c.193-118_193-117insGTGGTTGTTTGTTTGTTTTG	XP_005266024.1:n.193-118_193-117insGTGGTTGTTTGTTTGTTTTG
XM_006714911.2:c.193-118_193-117insGTGGTTGTTTGTTTGTTTTG	XP_006714974.1:n.193-118_193-117insGTGGTTGTTTGTTTGTTTTG
XM_011534621.1:c.190-118_190-117insGTGGTTGTTTGTTTGTTTTG	XP_011532923.1:n.190-118_190-117insGTGGTTGTTTGTTTGTTTTG
XM_005265966.5:c.193-118_193-117insGTGGTTGTTTGTTTGTTTTG	XP_005266023.1:n.193-118_193-117insGTGGTTGTTTGTTTGTTTTG
XM_005265967.2:c.193-118_193-117insGTGGTTGTTTGTTTGTTTTG	XP_005266024.1:n.193-118_193-117insGTGGTTGTTTGTTTGTTTTG
XM_011534621.2:c.190-118_190-117insGTGGTTGTTTGTTTGTTTTG	XP_011532923.1:n.190-118_190-117insGTGGTTGTTTGTTTGTTTTG
XM_017009723.2:c.193-118_193-117insGTGGTTGTTTGTTTGTTTTG	XP_016865212.1:n.193-118_193-117insGTGGTTGTTTGTTTGTTTTG
XM_017009724.1:c.193-118_193-117insGTGGTTGTTTGTTTGTTTTG	XP_016865213.1:n.193-118_193-117insGTGGTTGTTTGTTTGTTTTG
NM_001128209.2:c.190-118_190-117insGTGGTTGTTTGTTTGTTTTG	NP_001121681.1:n.190-118_190-117insGTGGTTGTTTGTTTGTTTTG
NM_172244.3:c.193-118_193-117insGTGGTTGTTTGTTTGTTTTG	NP_758447.1:n.193-118_193-117insGTGGTTGTTTGTTTGTTTTG
NM_000337.6:c.193-118_193-117insGTGGTTGTTTGTTTGTTTTG MANE Select	NP_000328.2:n.193-118_193-117insGTGGTTGTTTGTTTGTTTTG