Allele Registry

Canonical Allele Identifier: CA212950

Gene: CXCR4 HGNC NCBI

Linked Data - Expert Curation

COSMIC:

COSM5982011

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr2:g.136114911_136114912del

GRCh37 chr2:g.136872481_136872482del

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000015065

RCV001801238

ClinVar Variation:

14021

dbSNP:

730880320

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.136114912_136114913del , CM000664.2:g.136114912_136114913del	GRCh38
NC_000002.11:g.136872482_136872483del , CM000664.1:g.136872482_136872483del	GRCh37
NC_000002.10:g.136588952_136588953del	NCBI36
NG_011587.1:g.8244_8245del , LRG_51:g.8244_8245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696136.1:c.1004_1005del	ENSP00000512428.1:p.Ser335CysfsTer4
ENST00000696137.1:c.971_972del	ENSP00000512429.1:p.Ser324CysfsTer4
ENST00000696152.1:c.971_972del	ENSP00000512443.1:p.Ser324CysfsTer4
ENST00000696228.1:c.1004_1005del	ENSP00000512494.1:p.Ser335CysfsTer4
ENST00000241393.4:c.1016_1017del MANE Select	ENSP00000241393.3:p.Ser339CysfsTer4
ENST00000241393.3:c.1016_1017del	ENSP00000241393.3:p.Ser339CysfsTer4
ENST00000409817.1:c.1028_1029del	ENSP00000386884.1:p.Ser343CysfsTer4
ENST00000466288.1:n.1210_1211del
NM_001008540.1:c.1028_1029del	NP_001008540.1:p.Ser343CysfsTer4
NM_003467.2:c.1016_1017del , LRG_51t1:c.1016_1017del	NP_003458.1:p.Ser339CysfsTer4
NM_001008540.2:c.1028_1029del	NP_001008540.1:p.Ser343CysfsTer4
NM_001348056.1:c.1229_1230del	NP_001334985.1:p.Ser410CysfsTer4
NM_001348059.1:c.1115_1116del	NP_001334988.1:p.Ser372CysfsTer4
NM_001348060.1:c.971_972del	NP_001334989.1:p.Ser324CysfsTer4
NM_001348056.2:c.1229_1230del	NP_001334985.1:p.Ser410CysfsTer4
NM_001348059.2:c.1115_1116del	NP_001334988.1:p.Ser372CysfsTer4
NM_001348060.2:c.971_972del	NP_001334989.1:p.Ser324CysfsTer4
NM_003467.3:c.1016_1017del MANE Select	NP_003458.1:p.Ser339CysfsTer4

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