Canonical Allele Identifier: CA2638704159

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50185412-TGAGGGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185414_50185419del , CM000679.2:g.50185414_50185419del	GRCh38
NC_000017.10:g.48262775_48262780del , CM000679.1:g.48262775_48262780del	GRCh37
NC_000017.9:g.45617774_45617779del	NCBI36
NG_007400.1:g.21222_21227del , LRG_1:g.21222_21227del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.*84_*89del MANE Select	ENSP00000225964.6:n.*84_*89del
ENST00000225964.9:c.*84_*89del	ENSP00000225964.5:n.*84_*89del
NM_000088.3:c.*84_*89del , LRG_1t1:c.*84_*89del	NP_000079.2:n.*84_*89del
XM_005257058.3:c.*84_*89del	XP_005257115.2:n.*84_*89del
XM_005257059.3:c.*84_*89del	XP_005257116.2:n.*84_*89del
XM_011524341.1:c.*84_*89del	XP_011522643.1:n.*84_*89del
XM_005257058.4:c.*84_*89del	XP_005257115.2:n.*84_*89del
XM_005257059.4:c.*84_*89del	XP_005257116.2:n.*84_*89del
NM_000088.4:c.*84_*89del MANE Select	NP_000079.2:n.*84_*89del