Canonical Allele Identifier: CA2524295696
Gene: SHTN1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.117067965_117067968del , CM000672.2:g.117067965_117067968del GRCh38
NC_000010.10:g.118827476_118827479del , CM000672.1:g.118827476_118827479del GRCh37
NC_000010.9:g.118817466_118817469del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000392901.10:c.-188-19458_-188-19455del ENSP00000376635.4:n.-188-19458_-188-19455...
ENST00000392901.8:c.-188-19458_-188-19455del ENSP00000376635.4:n.-188-19458_-188-19455...
NM_001258300.1:c.-188-19458_-188-19455del NP_001245229.1:n.-188-19458_-188-19455del...