Canonical Allele Identifier: CA7183843
Gene: PYGL HGNC NCBI

Linked Data

dbSNP Id: rs778395563
ExAC: 14:51404446 C / CA
gnomAD v2: 14-51404446-C-CA
gnomAD v3: 14-50937728-C-CA
gnomAD v4: 14-50937728-C-CA
MyVariant Identifiers: chr14:g.51404446_51404447insA (hg19) chr14:g.50937728_50937729insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.50937730dup , CM000676.2:g.50937730dup GRCh38
NC_000014.8:g.51404448dup , CM000676.1:g.51404448dup GRCh37
NC_000014.7:g.50474198dup NCBI36
NG_012796.1:g.11802dup

Transcript Alleles

HGVS Amino-acid change
ENST00000216392.8:c.345+7dup MANE Select ENSP00000216392.7:n.345+7dup
ENST00000216392.7:c.345+7dup ENSP00000216392.7:n.345+7dup
ENST00000530336.2:n.412+7dup
ENST00000532462.5:c.345+7dup ENSP00000431657.1:n.345+7dup
ENST00000544180.6:c.244-2544dup ENSP00000443787.1:n.244-2544dup
NM_001163940.1:c.244-2544dup NP_001157412.1:n.244-2544dup
NM_002863.4:c.345+7dup NP_002854.3:n.345+7dup
NM_002863.5:c.345+7dup MANE Select NP_002854.3:n.345+7dup
NM_001163940.2:c.244-2544dup NP_001157412.1:n.244-2544dup
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