Canonical Allele Identifier: CA1066321119
Gene:

Linked Data

dbSNP Id: rs1724779167

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.105542499del , CM000666.2:g.105542499del GRCh38
NC_000004.11:g.106463656del , CM000666.1:g.106463656del GRCh37
NC_000004.10:g.106683105del NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_939038.1:n.506del
XR_939039.1:n.666del
XR_939040.1:n.296-1023del
XR_001741410.1:n.521del
XR_001741411.1:n.997del
XR_001741412.1:n.449+72del
XR_001741413.1:n.521del
XR_001741414.1:n.449+72del
XR_939038.2:n.521del
XR_939040.2:n.311-1023del