Allele Registry

Canonical Allele Identifier: CA16041500

Gene: PYGM HGNC NCBI

Linked Data - Predicted Effect Evidence

MyVariant.info:

GRCh38 chr11:g.64752493_64752496delinsTCA

GRCh37 chr11:g.64519965_64519968delinsTCA

Linked Data - NCBI & NCI

ClinVar RCV:

RCV000409188

ClinVar Variation:

370590

dbSNP:

1057516612

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64752493_64752496delinsTCA , CM000673.2:g.64752493_64752496delinsTCA	GRCh38
NC_000011.9:g.64519965_64519968delinsTCA , CM000673.1:g.64519965_64519968delinsTCA	GRCh37
NC_000011.8:g.64276541_64276544delinsTCA	NCBI36
NG_013018.1:g.13220_13223delinsTGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1527_1530delinsTGA MANE Select	ENSP00000164139.3:p.Asp511ThrfsTer28
ENST00000164139.3:c.1527_1530delinsTGA	ENSP00000164139.3:p.Asp511ThrfsTer28
ENST00000377432.7:c.1263_1266delinsTGA	ENSP00000366650.3:p.Asp423ThrfsTer28
NM_001164716.1:c.1263_1266delinsTGA	NP_001158188.1:p.Asp423ThrfsTer28
NM_005609.2:c.1527_1530delinsTGA	NP_005600.1:p.Asp511ThrfsTer28
NM_005609.3:c.1527_1530delinsTGA	NP_005600.1:p.Asp511ThrfsTer28
NM_005609.4:c.1527_1530delinsTGA MANE Select	NP_005600.1:p.Asp511ThrfsTer28

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