Canonical Allele Identifier: CA2684856940
Gene: SMO HGNC NCBI

Linked Data

gnomAD v4: 7-129213045-TC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213046del , CM000669.2:g.129213046del GRCh38
NC_000007.13:g.128852887del , CM000669.1:g.128852887del GRCh37
NC_000007.12:g.128640123del NCBI36
NG_023340.1:g.29175del
NG_023340.2:g.29175del

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*595del MANE Select ENSP00000249373.3:n.*595del
ENST00000655644.1:c.*2714del ENSP00000499377.1:n.*2714del
ENST00000249373.7:c.*595del ENSP00000249373.3:n.*595del
NM_005631.4:c.*595del NP_005622.1:n.*595del
XM_011516522.1:c.*595del XP_011514824.1:n.*595del
XM_024446891.1:c.*595del XP_024302659.1:n.*595del
NM_005631.5:c.*595del MANE Select NP_005622.1:n.*595del
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