Canonical Allele Identifier: CA2684856891
Gene: SMO HGNC NCBI

Linked Data

gnomAD v4: 7-129213035-C-CGAGAT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213035_129213036insGAGAT , CM000669.2:g.129213035_129213036insGAGAT GRCh38
NC_000007.13:g.128852876_128852877insGAGAT , CM000669.1:g.128852876_128852877insGAGAT GRCh37
NC_000007.12:g.128640112_128640113insGAGAT NCBI36
NG_023340.1:g.29164_29165insGAGAT
NG_023340.2:g.29164_29165insGAGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*584_*585insGAGAT MANE Select ENSP00000249373.3:n.*584_*585insGAGAT
ENST00000655644.1:c.*2703_*2704insGAGAT ENSP00000499377.1:n.*2703_*2704insGAGAT
ENST00000249373.7:c.*584_*585insGAGAT ENSP00000249373.3:n.*584_*585insGAGAT
NM_005631.4:c.*584_*585insGAGAT NP_005622.1:n.*584_*585insGAGAT
XM_011516522.1:c.*584_*585insGAGAT XP_011514824.1:n.*584_*585insGAGAT
XM_024446891.1:c.*584_*585insGAGAT XP_024302659.1:n.*584_*585insGAGAT
NM_005631.5:c.*584_*585insGAGAT MANE Select NP_005622.1:n.*584_*585insGAGAT
Search 100 bp 5'
Search 100 bp 3'