Canonical Allele Identifier: CA2263913570

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185354_50185355delinsCA , CM000679.2:g.50185354_50185355delinsCA	GRCh38
NC_000017.10:g.48262715_48262716delinsCA , CM000679.1:g.48262715_48262716delinsCA	GRCh37
NC_000017.9:g.45617714_45617715delinsCA	NCBI36
NG_007400.1:g.21285_21286delinsTG , LRG_1:g.21285_21286delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*147_*148delinsTG MANE Select	ENSP00000225964.6:n.*147_*148delinsTG
ENST00000225964.9:c.*147_*148delinsTG	ENSP00000225964.5:n.*147_*148delinsTG
NM_000088.3:c.*147_*148delinsTG , LRG_1t1:c.*147_*148delinsTG	NP_000079.2:n.*147_*148delinsTG
XM_005257058.3:c.*147_*148delinsTG	XP_005257115.2:n.*147_*148delinsTG
XM_005257059.3:c.*147_*148delinsTG	XP_005257116.2:n.*147_*148delinsTG
XM_011524341.1:c.*147_*148delinsTG	XP_011522643.1:n.*147_*148delinsTG
XM_005257058.4:c.*147_*148delinsTG	XP_005257115.2:n.*147_*148delinsTG
XM_005257059.4:c.*147_*148delinsTG	XP_005257116.2:n.*147_*148delinsTG
NM_000088.4:c.*147_*148delinsTG MANE Select	NP_000079.2:n.*147_*148delinsTG