Canonical Allele Identifier: CA2638704024

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185357-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185359del , CM000679.2:g.50185359del	GRCh38
NC_000017.10:g.48262720del , CM000679.1:g.48262720del	GRCh37
NC_000017.9:g.45617719del	NCBI36
NG_007400.1:g.21282del , LRG_1:g.21282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*144del MANE Select	ENSP00000225964.6:n.*144del
ENST00000225964.9:c.*144del	ENSP00000225964.5:n.*144del
NM_000088.3:c.*144del , LRG_1t1:c.*144del	NP_000079.2:n.*144del
XM_005257058.3:c.*144del	XP_005257115.2:n.*144del
XM_005257059.3:c.*144del	XP_005257116.2:n.*144del
XM_011524341.1:c.*144del	XP_011522643.1:n.*144del
XM_005257058.4:c.*144del	XP_005257115.2:n.*144del
XM_005257059.4:c.*144del	XP_005257116.2:n.*144del
NM_000088.4:c.*144del MANE Select	NP_000079.2:n.*144del