Canonical Allele Identifier: CA107748728
Gene:

Linked Data

dbSNP Id: rs976642220

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144559619_144559623del , CM000666.2:g.144559619_144559623del GRCh38
NC_000004.11:g.145480771_145480775del , CM000666.1:g.145480771_145480775del GRCh37
NC_000004.10:g.145700221_145700225del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000649263.1:c.328-143643_328-143639del ENSP00000497507.1:n.328-143643_328-143639del
XR_939272.1:n.178+2363_178+2367del
XR_939273.1:n.178+2363_178+2367del
XR_939272.2:n.522+2363_522+2367del
XR_939273.2:n.522+2363_522+2367del