Canonical Allele Identifier: CA166270354
Gene: SMO HGNC NCBI

Linked Data

dbSNP Id: rs775598710
gnomAD v2: 7-128852932-GT-G
gnomAD v3: 7-129213091-GT-G
gnomAD v4: 7-129213091-GT-G
MyVariant Identifiers: chr7:g.128852933del (hg19) chr7:g.129213092del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213094del , CM000669.2:g.129213094del GRCh38
NC_000007.13:g.128852935del , CM000669.1:g.128852935del GRCh37
NC_000007.12:g.128640171del NCBI36
NG_023340.1:g.29223del
NG_023340.2:g.29223del

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*643del MANE Select ENSP00000249373.3:n.*643del
ENST00000655644.1:c.*2762del ENSP00000499377.1:n.*2762del
ENST00000249373.7:c.*643del ENSP00000249373.3:n.*643del
NM_005631.4:c.*643del NP_005622.1:n.*643del
XM_011516522.1:c.*643del XP_011514824.1:n.*643del
XM_024446891.1:c.*643del XP_024302659.1:n.*643del
NM_005631.5:c.*643del MANE Select NP_005622.1:n.*643del
Search 100 bp 5'
Search 100 bp 3'