Canonical Allele Identifier: CA626689582

Gene: COL1A1

Linked Data

• dbSNP Id: rs1227147091
• gnomAD v2: 17-48272058-GA-G
• MyVariant Identifiers: chr17:g.48272059del (hg19) ; chr17:g.50194698del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50194698del , CM000679.2:g.50194698del	GRCh38
NC_000017.10:g.48272059del , CM000679.1:g.48272059del	GRCh37
NC_000017.9:g.45627058del	NCBI36
NG_007400.1:g.11942del , LRG_1:g.11942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1461+23del MANE Select	ENSP00000225964.6:n.1461+23del
ENST00000225964.9:c.1461+23del	ENSP00000225964.5:n.1461+23del
ENST00000471344.1:n.405+23del
NM_000088.3:c.1461+23del , LRG_1t1:c.1461+23del	NP_000079.2:n.1461+23del
XM_005257058.3:c.1461+23del	XP_005257115.2:n.1461+23del
XM_005257059.3:c.957+1616del	XP_005257116.2:n.957+1616del
XM_011524341.1:c.1263+23del	XP_011522643.1:n.1263+23del
XM_005257058.4:c.1461+23del	XP_005257115.2:n.1461+23del
XM_005257059.4:c.957+1616del	XP_005257116.2:n.957+1616del
NM_000088.4:c.1461+23del MANE Select	NP_000079.2:n.1461+23del