Canonical Allele Identifier: CA692339962
Gene:

Linked Data

dbSNP Id: rs1479347354
gnomAD v3: 12-80069355-CAA-C
gnomAD v4: 12-80069355-CAA-C
MyVariant Identifiers: chr12:g.80463136_80463137del (hg19) chr12:g.80069356_80069357del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.80069357_80069358del , CM000674.2:g.80069357_80069358del GRCh38
NC_000012.11:g.80463137_80463138del , CM000674.1:g.80463137_80463138del GRCh37
NC_000012.10:g.78987268_78987269del NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_945140.1:n.456+8175_456+8176del
XR_945141.1:n.1758+8175_1758+8176del
Search 100 bp 5'
Search 100 bp 3'