Canonical Allele Identifier: CA2263916137

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50190308_50190309delinsTG , CM000679.2:g.50190308_50190309delinsTG	GRCh38
NC_000017.10:g.48267669_48267670delinsTG , CM000679.1:g.48267669_48267670delinsTG	GRCh37
NC_000017.9:g.45622668_45622669delinsTG	NCBI36
NG_007400.1:g.16331_16332delinsCA , LRG_1:g.16331_16332delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.2451+18_2451+19delinsCA MANE Select	ENSP00000225964.6:n.2451+18_2451+19delinsCA
ENST00000225964.9:c.2451+18_2451+19delinsCA	ENSP00000225964.5:n.2451+18_2451+19delinsCA
NM_000088.3:c.2451+18_2451+19delinsCA , LRG_1t1:c.2451+18_2451+19delinsCA	NP_000079.2:n.2451+18_2451+19delinsCA
XM_005257058.3:c.2451+18_2451+19delinsCA	XP_005257115.2:n.2451+18_2451+19delinsCA
XM_005257059.3:c.1533+18_1533+19delinsCA	XP_005257116.2:n.1533+18_1533+19delinsCA
XM_011524341.1:c.2253+18_2253+19delinsCA	XP_011522643.1:n.2253+18_2253+19delinsCA
XM_005257058.4:c.2451+18_2451+19delinsCA	XP_005257115.2:n.2451+18_2451+19delinsCA
XM_005257059.4:c.1533+18_1533+19delinsCA	XP_005257116.2:n.1533+18_1533+19delinsCA
NM_000088.4:c.2451+18_2451+19delinsCA MANE Select	NP_000079.2:n.2451+18_2451+19delinsCA