Canonical Allele Identifier: CA2576317277

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50195861-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50195862del , CM000679.2:g.50195862del	GRCh38
NC_000017.10:g.48273223del , CM000679.1:g.48273223del	GRCh37
NC_000017.9:g.45628222del	NCBI36
NG_007400.1:g.10778del , LRG_1:g.10778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1056+61del MANE Select	ENSP00000225964.6:n.1056+61del
ENST00000225964.9:c.1056+61del	ENSP00000225964.5:n.1056+61del
NM_000088.3:c.1056+61del , LRG_1t1:c.1056+61del	NP_000079.2:n.1056+61del
XM_005257058.3:c.1056+61del	XP_005257115.2:n.1056+61del
XM_005257059.3:c.957+452del	XP_005257116.2:n.957+452del
XM_011524341.1:c.958-384del	XP_011522643.1:n.958-384del
XM_005257058.4:c.1056+61del	XP_005257115.2:n.1056+61del
XM_005257059.4:c.957+452del	XP_005257116.2:n.957+452del
NM_000088.4:c.1056+61del MANE Select	NP_000079.2:n.1056+61del