Canonical Allele Identifier: CA2684857356

Gene: SMO

Linked Data

• gnomAD v4: 7-129213257-T-TGACAG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213261_129213262insGGACA , CM000669.2:g.129213261_129213262insGGACA	GRCh38
NC_000007.13:g.128853102_128853103insGGACA , CM000669.1:g.128853102_128853103insGGACA	GRCh37
NC_000007.12:g.128640338_128640339insGGACA	NCBI36
NG_023340.1:g.29390_29391insGGACA
NG_023340.2:g.29390_29391insGGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*810_*811insGGACA MANE Select	ENSP00000249373.3:n.*810_*811insGGACA
ENST00000655644.1:c.*2929_*2930insGGACA	ENSP00000499377.1:n.*2929_*2930insGGACA
ENST00000249373.7:c.*810_*811insGGACA	ENSP00000249373.3:n.*810_*811insGGACA
NM_005631.4:c.*810_*811insGGACA	NP_005622.1:n.*810_*811insGGACA
XM_011516522.1:c.*810_*811insGGACA	XP_011514824.1:n.*810_*811insGGACA
XM_024446891.1:c.*810_*811insGGACA	XP_024302659.1:n.*810_*811insGGACA
NM_005631.5:c.*810_*811insGGACA MANE Select	NP_005622.1:n.*810_*811insGGACA