Canonical Allele Identifier: CA772791825

Gene: COL1A1

Linked Data

• dbSNP Id: rs1256439726
• MyVariant Identifiers: chr17:g.48272065del (hg19) ; chr17:g.50194704del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194704del , CM000679.2:g.50194704del	GRCh38
NC_000017.10:g.48272065del , CM000679.1:g.48272065del	GRCh37
NC_000017.9:g.45627064del	NCBI36
NG_007400.1:g.11936del , LRG_1:g.11936del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1461+17del MANE Select	ENSP00000225964.6:n.1461+17del
ENST00000225964.9:c.1461+17del	ENSP00000225964.5:n.1461+17del
ENST00000471344.1:n.405+17del
NM_000088.3:c.1461+17del , LRG_1t1:c.1461+17del	NP_000079.2:n.1461+17del
XM_005257058.3:c.1461+17del	XP_005257115.2:n.1461+17del
XM_005257059.3:c.957+1610del	XP_005257116.2:n.957+1610del
XM_011524341.1:c.1263+17del	XP_011522643.1:n.1263+17del
XM_005257058.4:c.1461+17del	XP_005257115.2:n.1461+17del
XM_005257059.4:c.957+1610del	XP_005257116.2:n.957+1610del
NM_000088.4:c.1461+17del MANE Select	NP_000079.2:n.1461+17del