Canonical Allele Identifier: CA2695226633

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193010_50193011delinsACG , CM000679.2:g.50193010_50193011delinsACG	GRCh38
NC_000017.10:g.48270371_48270372delinsACG , CM000679.1:g.48270371_48270372delinsACG	GRCh37
NC_000017.9:g.45625370_45625371delinsACG	NCBI36
NG_007400.1:g.13629_13630delinsCGT , LRG_1:g.13629_13630delinsCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1804_1805delinsCGT MANE Select	ENSP00000225964.6:p.Gly602ArgfsTer?
ENST00000225964.9:c.1804_1805delinsCGT	ENSP00000225964.5:p.Gly602ArgfsTer?
ENST00000476387.1:n.153_154delinsCGT
NM_000088.3:c.1804_1805delinsCGT , LRG_1t1:c.1804_1805delinsCGT	NP_000079.2:p.Gly602ArgfsTer?
XM_005257058.3:c.1804_1805delinsCGT	XP_005257115.2:p.Gly602ArgfsTer?
XM_005257059.3:c.958-318_958-317delinsCGT	XP_005257116.2:n.958-318_958-317delinsCGT
XM_011524341.1:c.1606_1607delinsCGT	XP_011522643.1:p.Gly536ArgfsTer?
XM_005257058.4:c.1804_1805delinsCGT	XP_005257115.2:p.Gly602ArgfsTer?
XM_005257059.4:c.958-318_958-317delinsCGT	XP_005257116.2:n.958-318_958-317delinsCGT
NM_000088.4:c.1804_1805delinsCGT MANE Select	NP_000079.2:p.Gly602ArgfsTer?