Canonical Allele Identifier: CA291544844

Gene: COL1A1

Linked Data

• dbSNP Id: rs529004847
• gnomAD v2: 17-48271042-CTA-C
• gnomAD v3: 17-50193681-CTA-C
• gnomAD v4: 17-50193681-CTA-C
• MyVariant Identifiers: chr17:g.48271043_48271044del (hg19) ; chr17:g.50193682_50193683del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50193683_50193684del , CM000679.2:g.50193683_50193684del	GRCh38
NC_000017.10:g.48271044_48271045del , CM000679.1:g.48271044_48271045del	GRCh37
NC_000017.9:g.45626043_45626044del	NCBI36
NG_007400.1:g.12957_12958del , LRG_1:g.12957_12958del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1767+260_1767+261del MANE Select	ENSP00000225964.6:n.1767+260_1767+261del
ENST00000225964.9:c.1767+260_1767+261del	ENSP00000225964.5:n.1767+260_1767+261del
ENST00000463440.1:n.417_418del
ENST00000471344.1:n.1059_1060del
ENST00000476387.1:n.116+260_116+261del
NM_000088.3:c.1767+260_1767+261del , LRG_1t1:c.1767+260_1767+261del	NP_000079.2:n.1767+260_1767+261del
XM_005257058.3:c.1767+260_1767+261del	XP_005257115.2:n.1767+260_1767+261del
XM_005257059.3:c.958-990_958-989del	XP_005257116.2:n.958-990_958-989del
XM_011524341.1:c.1569+260_1569+261del	XP_011522643.1:n.1569+260_1569+261del
XM_005257058.4:c.1767+260_1767+261del	XP_005257115.2:n.1767+260_1767+261del
XM_005257059.4:c.958-990_958-989del	XP_005257116.2:n.958-990_958-989del
NM_000088.4:c.1767+260_1767+261del MANE Select	NP_000079.2:n.1767+260_1767+261del