Canonical Allele Identifier: CA2263918976

Gene: COL1A1

Linked Data

• dbSNP Id: rs766175536

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195915_50195916del , CM000679.2:g.50195915_50195916del	GRCh38
NC_000017.10:g.48273276_48273277del , CM000679.1:g.48273276_48273277del	GRCh37
NC_000017.9:g.45628275_45628276del	NCBI36
NG_007400.1:g.10728_10729del , LRG_1:g.10728_10729del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1056+11_1056+12del MANE Select	ENSP00000225964.6:n.1056+11_1056+12del
ENST00000225964.9:c.1056+11_1056+12del	ENSP00000225964.5:n.1056+11_1056+12del
NM_000088.3:c.1056+11_1056+12del , LRG_1t1:c.1056+11_1056+12del	NP_000079.2:n.1056+11_1056+12del
XM_005257058.3:c.1056+11_1056+12del	XP_005257115.2:n.1056+11_1056+12del
XM_005257059.3:c.957+402_957+403del	XP_005257116.2:n.957+402_957+403del
XM_011524341.1:c.957+402_957+403del	XP_011522643.1:n.957+402_957+403del
XM_005257058.4:c.1056+11_1056+12del	XP_005257115.2:n.1056+11_1056+12del
XM_005257059.4:c.957+402_957+403del	XP_005257116.2:n.957+402_957+403del
NM_000088.4:c.1056+11_1056+12del MANE Select	NP_000079.2:n.1056+11_1056+12del