Canonical Allele Identifier: CA1742701054

Gene: SMO

Linked Data

• dbSNP Id: rs1793906080

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129213066_129213068del , CM000669.2:g.129213066_129213068del	GRCh38
NC_000007.13:g.128852907_128852909del , CM000669.1:g.128852907_128852909del	GRCh37
NC_000007.12:g.128640143_128640145del	NCBI36
NG_023340.1:g.29195_29197del
NG_023340.2:g.29195_29197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*615_*617del MANE Select	ENSP00000249373.3:n.*615_*617del
ENST00000655644.1:c.*2734_*2736del	ENSP00000499377.1:n.*2734_*2736del
ENST00000249373.7:c.*615_*617del	ENSP00000249373.3:n.*615_*617del
NM_005631.4:c.*615_*617del	NP_005622.1:n.*615_*617del
XM_011516522.1:c.*615_*617del	XP_011514824.1:n.*615_*617del
XM_024446891.1:c.*615_*617del	XP_024302659.1:n.*615_*617del
NM_005631.5:c.*615_*617del MANE Select	NP_005622.1:n.*615_*617del