Canonical Allele Identifier: CA2685803519
Gene: SHH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.155812177del , CM000669.2:g.155812177del GRCh38
NC_000007.13:g.155604871del , CM000669.1:g.155604871del GRCh37
NC_000007.12:g.155297632del NCBI36
NG_007504.2:g.5097del

Transcript Alleles

HGVS Amino-acid Change
ENST00000297261.7:c.-55del MANE Select ENSP00000297261.2:n.-55del
ENST00000297261.6:c.-55del ENSP00000297261.2:n.-55del
NM_000193.2:c.-55del NP_000184.1:n.-55del
NM_000193.3:c.-55del NP_000184.1:n.-55del
NM_000193.4:c.-55del MANE Select NP_000184.1:n.-55del