Canonical Allele Identifier: CA833182425
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs1305353258
MyVariant Identifiers: chr7:g.128853086del (hg19) chr7:g.129213245del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213245del , CM000669.2:g.129213245del GRCh38
NC_000007.13:g.128853086del , CM000669.1:g.128853086del GRCh37
NC_000007.12:g.128640322del NCBI36
NG_023340.1:g.29374del
NG_023340.2:g.29374del

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*794del MANE Select ENSP00000249373.3:n.*794del
ENST00000655644.1:c.*2913del ENSP00000499377.1:n.*2913del
ENST00000249373.7:c.*794del ENSP00000249373.3:n.*794del
NM_005631.4:c.*794del NP_005622.1:n.*794del
XM_011516522.1:c.*794del XP_011514824.1:n.*794del
XM_024446891.1:c.*794del XP_024302659.1:n.*794del
NM_005631.5:c.*794del MANE Select NP_005622.1:n.*794del
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