Canonical Allele Identifier: CA2684857040
Gene: SMO HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.129213071_129213072insAC , CM000669.2:g.129213071_129213072insAC GRCh38
NC_000007.13:g.128852912_128852913insAC , CM000669.1:g.128852912_128852913insAC GRCh37
NC_000007.12:g.128640148_128640149insAC NCBI36
NG_023340.2:g.29200_29201insAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000249373.8:c.*620_*621insAC MANE Select ENSP00000249373.3:n.*620_*621insAC
ENST00000655644.1:c.*2739_*2740insAC ENSP00000499377.1:n.*2739_*2740insAC
ENST00000249373.7:c.*620_*621insAC ENSP00000249373.3:n.*620_*621insAC
XM_011516522.1:c.*620_*621insAC XP_011514824.1:n.*620_*621insAC
XM_024446891.1:c.*620_*621insAC XP_024302659.1:n.*620_*621insAC
NM_005631.5:c.*620_*621insAC MANE Select NP_005622.1:n.*620_*621insAC