Canonical Allele Identifier: CA2638710175

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50194110-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194111del , CM000679.2:g.50194111del	GRCh38
NC_000017.10:g.48271472del , CM000679.1:g.48271472del	GRCh37
NC_000017.9:g.45626471del	NCBI36
NG_007400.1:g.12529del , LRG_1:g.12529del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1668+19del MANE Select	ENSP00000225964.6:n.1668+19del
ENST00000225964.9:c.1668+19del	ENSP00000225964.5:n.1668+19del
ENST00000463440.1:n.58+19del
ENST00000471344.1:n.631del
NM_000088.3:c.1668+19del , LRG_1t1:c.1668+19del	NP_000079.2:n.1668+19del
XM_005257058.3:c.1668+19del	XP_005257115.2:n.1668+19del
XM_005257059.3:c.958-1418del	XP_005257116.2:n.958-1418del
XM_011524341.1:c.1470+19del	XP_011522643.1:n.1470+19del
XM_005257058.4:c.1668+19del	XP_005257115.2:n.1668+19del
XM_005257059.4:c.958-1418del	XP_005257116.2:n.958-1418del
NM_000088.4:c.1668+19del MANE Select	NP_000079.2:n.1668+19del