Canonical Allele Identifier: CA2263918812

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195593_50195594delinsCA , CM000679.2:g.50195593_50195594delinsCA	GRCh38
NC_000017.10:g.48272954_48272955delinsCA , CM000679.1:g.48272954_48272955delinsCA	GRCh37
NC_000017.9:g.45627953_45627954delinsCA	NCBI36
NG_007400.1:g.11046_11047delinsTG , LRG_1:g.11046_11047delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1128_1129delinsTG MANE Select	ENSP00000225964.6:p.Pro376=
ENST00000225964.9:c.1128_1129delinsTG	ENSP00000225964.5:p.Pro376=
ENST00000471344.1:n.72_73delinsTG
NM_000088.3:c.1128_1129delinsTG , LRG_1t1:c.1128_1129delinsTG	NP_000079.2:p.Pro376=
XM_005257058.3:c.1128_1129delinsTG	XP_005257115.2:p.Pro376=
XM_005257059.3:c.957+720_957+721delinsTG	XP_005257116.2:n.957+720_957+721delinsTG
XM_011524341.1:c.958-116_958-115delinsTG	XP_011522643.1:n.958-116_958-115delinsTG
XM_005257058.4:c.1128_1129delinsTG	XP_005257115.2:p.Pro376=
XM_005257059.4:c.957+720_957+721delinsTG	XP_005257116.2:n.957+720_957+721delinsTG
NM_000088.4:c.1128_1129delinsTG MANE Select	NP_000079.2:p.Pro376=