Canonical Allele Identifier: CA2631641500
Gene: PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797687-C-CTGCTGCTTTCTCTTAGCCTAGTCTGGGGAAGGGGAAACAGCGGAG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797687_8797688insTGCTGCTTTCTCTTAGCCTAGTCTGGGGAAGGGGAAACAGCGGAG , CM000678.2:g.8797687_8797688insTGCTGCTTTCTCTTAGCCTAGTCTGGGGAAGGGGAAACAGCGGAG GRCh38
NC_000016.9:g.8891544_8891545insTGCTGCTTTCTCTTAGCCTAGTCTGGGGAAGGGGAAACAGCGGAG , CM000678.1:g.8891544_8891545insTGCTGCTTTCTCTTAGCCTAGTCTGGGGAAGGGGAAACAGCGGAG GRCh37
NC_000016.8:g.8799045_8799046insTGCTGCTTTCTCTTAGCCTAGTCTGGGGAAGGGGAAACAGCGGAG NCBI36
NG_009209.1:g.4875_4876insTGCTGCTTTCTCTTAGCCTAGTCTGGGGAAGGGGAAACAGCGGAG
NG_033146.1:g.4961_4962insCTCCGCTGTTTCCCCTTCCCCAGACTAGGCTAAGAGAAAGCAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000566983.5:c.-15-4112_-15-4111insTGCTGCTTTCTCTTAGCCTAGTCTGGGGAAGGGGAAACAGCGGAG ENSP00000457956.1:n.-15-4112_-15-4111insTGCTGCTTTCTCTTAGCCTAG...
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