Canonical Allele Identifier: CA918127713
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs1584667556

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213216_129213222del , CM000669.2:g.129213216_129213222del GRCh38
NC_000007.13:g.128853057_128853063del , CM000669.1:g.128853057_128853063del GRCh37
NC_000007.12:g.128640293_128640299del NCBI36
NG_023340.1:g.29345_29351del
NG_023340.2:g.29345_29351del

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*765_*771del MANE Select ENSP00000249373.3:n.*765_*771del
ENST00000655644.1:c.*2884_*2890del ENSP00000499377.1:n.*2884_*2890del
ENST00000249373.7:c.*765_*771del ENSP00000249373.3:n.*765_*771del
NM_005631.4:c.*765_*771del NP_005622.1:n.*765_*771del
XM_011516522.1:c.*765_*771del XP_011514824.1:n.*765_*771del
XM_024446891.1:c.*765_*771del XP_024302659.1:n.*765_*771del
NM_005631.5:c.*765_*771del MANE Select NP_005622.1:n.*765_*771del