Canonical Allele Identifier: CA337437958
Gene:

Linked Data

dbSNP Id: rs34584913
gnomAD v3: Y-2791234-AT-A
gnomAD v4: Y-2791234-AT-A

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2791243del , CM000686.2:g.2791243del GRCh38
NC_000024.9:g.2659284del , CM000686.1:g.2659284del GRCh37
NC_000024.8:g.2719284del NCBI36
NG_011751.1:g.1517del

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+16504del
ENST00000681787.1:n.106+16504del
ENST00000681940.1:n.106+16504del