Canonical Allele Identifier: CA260281

Gene: COL1A1

Linked Data

• ClinVar Variation Id: 35903
• ClinVar RCV Id: RCV000029558
• dbSNP Id: rs193922141
• MyVariant Identifiers: chr17:g.48271502del (hg19) ; chr17:g.50194141del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194144del , CM000679.2:g.50194144del	GRCh38
NC_000017.10:g.48271505del , CM000679.1:g.48271505del	GRCh37
NC_000017.9:g.45626504del	NCBI36
NG_007400.1:g.12499del , LRG_1:g.12499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1657del MANE Select	ENSP00000225964.6:p.Thr553LeufsTer27
ENST00000225964.9:c.1657del	ENSP00000225964.5:p.Thr553LeufsTer27
ENST00000463440.1:n.47del
ENST00000471344.1:n.601del
NM_000088.3:c.1657del , LRG_1t1:c.1657del	NP_000079.2:p.Thr553LeufsTer27
XM_005257058.3:c.1657del	XP_005257115.2:p.Thr553LeufsTer27
XM_005257059.3:c.958-1448del	XP_005257116.2:n.958-1448del
XM_011524341.1:c.1459del	XP_011522643.1:p.Thr487LeufsTer27
XM_005257058.4:c.1657del	XP_005257115.2:p.Thr553LeufsTer27
XM_005257059.4:c.958-1448del	XP_005257116.2:n.958-1448del
NM_000088.4:c.1657del MANE Select	NP_000079.2:p.Thr553LeufsTer27