Allele Registry

Canonical Allele Identifier: CA281085

Gene: COL1A1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr17:g.50185535_50185539del

GRCh37 chr17:g.48262896_48262900del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000018848

ClinVar Variation:

17307

dbSNP:

72656352

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185535_50185539del , CM000679.2:g.50185535_50185539del	GRCh38
NC_000017.10:g.48262896_48262900del , CM000679.1:g.48262896_48262900del	GRCh37
NC_000017.9:g.45617895_45617899del	NCBI36
NG_007400.1:g.21101_21105del , LRG_1:g.21101_21105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4358_4362del MANE Select	ENSP00000225964.6:p.Glu1453GlyfsTer?
ENST00000225964.9:c.4358_4362del	ENSP00000225964.5:p.Glu1453GlyfsTer?
NM_000088.3:c.4358_4362del , LRG_1t1:c.4358_4362del	NP_000079.2:p.Glu1453GlyfsTer?
XM_005257058.3:c.4088_4092del	XP_005257115.2:p.Glu1363GlyfsTer?
XM_005257059.3:c.3440_3444del	XP_005257116.2:p.Glu1147GlyfsTer?
XM_011524341.1:c.4160_4164del	XP_011522643.1:p.Glu1387GlyfsTer?
XM_005257058.4:c.4088_4092del	XP_005257115.2:p.Glu1363GlyfsTer?
XM_005257059.4:c.3440_3444del	XP_005257116.2:p.Glu1147GlyfsTer?
NM_000088.4:c.4358_4362del MANE Select	NP_000079.2:p.Glu1453GlyfsTer?

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