Canonical Allele Identifier: CA2638709929

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50193639-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193642del , CM000679.2:g.50193642del	GRCh38
NC_000017.10:g.48271003del , CM000679.1:g.48271003del	GRCh37
NC_000017.9:g.45626002del	NCBI36
NG_007400.1:g.13000del , LRG_1:g.13000del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1767+303del MANE Select	ENSP00000225964.6:n.1767+303del
ENST00000225964.9:c.1767+303del	ENSP00000225964.5:n.1767+303del
ENST00000463440.1:n.460del
ENST00000471344.1:n.1102del
ENST00000476387.1:n.116+303del
NM_000088.3:c.1767+303del , LRG_1t1:c.1767+303del	NP_000079.2:n.1767+303del
XM_005257058.3:c.1767+303del	XP_005257115.2:n.1767+303del
XM_005257059.3:c.958-947del	XP_005257116.2:n.958-947del
XM_011524341.1:c.1569+303del	XP_011522643.1:n.1569+303del
XM_005257058.4:c.1767+303del	XP_005257115.2:n.1767+303del
XM_005257059.4:c.958-947del	XP_005257116.2:n.958-947del
NM_000088.4:c.1767+303del MANE Select	NP_000079.2:n.1767+303del