Canonical Allele Identifier: CA577743472
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs1329658711
gnomAD v2: 7-128853146-TG-T
gnomAD v3: 7-129213305-TG-T
gnomAD v4: 7-129213305-TG-T
MyVariant Identifiers: chr7:g.128853147del (hg19) chr7:g.129213306del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213310del , CM000669.2:g.129213310del GRCh38
NC_000007.13:g.128853151del , CM000669.1:g.128853151del GRCh37
NC_000007.12:g.128640387del NCBI36
NG_023340.1:g.29439del
NG_023340.2:g.29439del

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*859del MANE Select ENSP00000249373.3:n.*859del
ENST00000655644.1:c.*2978del ENSP00000499377.1:n.*2978del
ENST00000249373.7:c.*859del ENSP00000249373.3:n.*859del
NM_005631.4:c.*859del NP_005622.1:n.*859del
XM_011516522.1:c.*859del XP_011514824.1:n.*859del
XM_024446891.1:c.*859del XP_024302659.1:n.*859del
NM_005631.5:c.*859del MANE Select NP_005622.1:n.*859del
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