Canonical Allele Identifier: CA606760649

Gene: PGAM1P5

Linked Data

• dbSNP Id: rs1337863090
• gnomAD v2: 12-95959819-CAAT-C
• gnomAD v3: 12-95566043-CAAT-C
• gnomAD v4: 12-95566043-CAAT-C
• MyVariant Identifiers: chr12:g.95959820_95959822del (hg19) ; chr12:g.95566044_95566046del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.95566044_95566046del , CM000674.2:g.95566044_95566046del	GRCh38
NC_000012.11:g.95959820_95959822del , CM000674.1:g.95959820_95959822del	GRCh37
NC_000012.10:g.94483951_94483953del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000626376.2:n.219+14244_219+14246del