Canonical Allele Identifier: CA772776198

Gene: COL1A1

Linked Data

• dbSNP Id: rs1221917866
• gnomAD v3: 17-50198832-TTGGGG-T
• gnomAD v4: 17-50198832-TTGGGG-T
• MyVariant Identifiers: chr17:g.48276194_48276198del (hg19) ; chr17:g.50198833_50198837del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50198836_50198840del , CM000679.2:g.50198836_50198840del	GRCh38
NC_000017.10:g.48276197_48276201del , CM000679.1:g.48276197_48276201del	GRCh37
NC_000017.9:g.45631196_45631200del	NCBI36
NG_007400.1:g.7803_7807del , LRG_1:g.7803_7807del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.472-333_472-329del MANE Select	ENSP00000225964.6:n.472-333_472-329del
ENST00000225964.9:c.472-333_472-329del	ENSP00000225964.5:n.472-333_472-329del
NM_000088.3:c.472-333_472-329del , LRG_1t1:c.472-333_472-329del	NP_000079.2:n.472-333_472-329del
XM_005257058.3:c.472-333_472-329del	XP_005257115.2:n.472-333_472-329del
XM_005257059.3:c.472-333_472-329del	XP_005257116.2:n.472-333_472-329del
XM_011524341.1:c.472-333_472-329del	XP_011522643.1:n.472-333_472-329del
XM_005257058.4:c.472-333_472-329del	XP_005257115.2:n.472-333_472-329del
XM_005257059.4:c.472-333_472-329del	XP_005257116.2:n.472-333_472-329del
NM_000088.4:c.472-333_472-329del MANE Select	NP_000079.2:n.472-333_472-329del