Canonical Allele Identifier: CA2638709973

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50193695-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193696_50193697del , CM000679.2:g.50193696_50193697del	GRCh38
NC_000017.10:g.48271057_48271058del , CM000679.1:g.48271057_48271058del	GRCh37
NC_000017.9:g.45626056_45626057del	NCBI36
NG_007400.1:g.12943_12944del , LRG_1:g.12943_12944del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1767+246_1767+247del MANE Select	ENSP00000225964.6:n.1767+246_1767+247del
ENST00000225964.9:c.1767+246_1767+247del	ENSP00000225964.5:n.1767+246_1767+247del
ENST00000463440.1:n.403_404del
ENST00000471344.1:n.1045_1046del
ENST00000476387.1:n.116+246_116+247del
NM_000088.3:c.1767+246_1767+247del , LRG_1t1:c.1767+246_1767+247del	NP_000079.2:n.1767+246_1767+247del
XM_005257058.3:c.1767+246_1767+247del	XP_005257115.2:n.1767+246_1767+247del
XM_005257059.3:c.958-1004_958-1003del	XP_005257116.2:n.958-1004_958-1003del
XM_011524341.1:c.1569+246_1569+247del	XP_011522643.1:n.1569+246_1569+247del
XM_005257058.4:c.1767+246_1767+247del	XP_005257115.2:n.1767+246_1767+247del
XM_005257059.4:c.958-1004_958-1003del	XP_005257116.2:n.958-1004_958-1003del
NM_000088.4:c.1767+246_1767+247del MANE Select	NP_000079.2:n.1767+246_1767+247del