Canonical Allele Identifier: CA1107087309

Gene: SMO

Linked Data

• dbSNP Id: rs1793904730
• gnomAD v3: 7-129212993-GCTC-G
• gnomAD v4: 7-129212993-GCTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129212995_129212997del , CM000669.2:g.129212995_129212997del	GRCh38
NC_000007.13:g.128852836_128852838del , CM000669.1:g.128852836_128852838del	GRCh37
NC_000007.12:g.128640072_128640074del	NCBI36
NG_023340.1:g.29124_29126del
NG_023340.2:g.29124_29126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*544_*546del MANE Select	ENSP00000249373.3:n.*544_*546del
ENST00000655644.1:c.*2663_*2665del	ENSP00000499377.1:n.*2663_*2665del
ENST00000249373.7:c.*544_*546del	ENSP00000249373.3:n.*544_*546del
NM_005631.4:c.*544_*546del	NP_005622.1:n.*544_*546del
XM_011516522.1:c.*544_*546del	XP_011514824.1:n.*544_*546del
XM_024446891.1:c.*544_*546del	XP_024302659.1:n.*544_*546del
NM_005631.5:c.*544_*546del MANE Select	NP_005622.1:n.*544_*546del