Canonical Allele Identifier: CA337623247
Gene:

Linked Data

dbSNP Id: rs776985940

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.8606041_8606042del , CM000686.2:g.8606041_8606042del GRCh38
NC_000024.9:g.8474082_8474083del , CM000686.1:g.8474082_8474083del GRCh37
NC_000024.8:g.8534082_8534083del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000624507.1:c.53-1009_53-1008del ENSP00000485522.1:n.53-1009_53-1008del
ENST00000624593.1:c.92+16812_92+16813del ENSP00000485106.1:n.92+16812_92+16813del