Canonical Allele Identifier: CA2809757648

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188611_50188612insCGTTC , CM000679.2:g.50188611_50188612insCGTTC	GRCh38
NC_000017.10:g.48265972_48265973insCGTTC , CM000679.1:g.48265972_48265973insCGTTC	GRCh37
NC_000017.9:g.45620971_45620972insCGTTC	NCBI36
NG_007400.1:g.18028_18029insGAACG , LRG_1:g.18028_18029insGAACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3125_3126insGAACG MANE Select	ENSP00000225964.6:p.Gly1043AsnfsTer?
ENST00000225964.9:c.3125_3126insGAACG	ENSP00000225964.5:p.Gly1043AsnfsTer?
ENST00000511732.1:n.69_70insGAACG
NM_000088.3:c.3125_3126insGAACG , LRG_1t1:c.3125_3126insGAACG	NP_000079.2:p.Gly1043AsnfsTer?
XM_005257058.3:c.2855_2856insGAACG	XP_005257115.2:p.Gly953AsnfsTer?
XM_005257059.3:c.2207_2208insGAACG	XP_005257116.2:p.Gly737AsnfsTer?
XM_011524341.1:c.2927_2928insGAACG	XP_011522643.1:p.Gly977AsnfsTer?
XM_005257058.4:c.2855_2856insGAACG	XP_005257115.2:p.Gly953AsnfsTer?
XM_005257059.4:c.2207_2208insGAACG	XP_005257116.2:p.Gly737AsnfsTer?
NM_000088.4:c.3125_3126insGAACG MANE Select	NP_000079.2:p.Gly1043AsnfsTer?