Canonical Allele Identifier: CA833182265

Gene: SMO

Linked Data

• dbSNP Id: rs1400637971
• MyVariant Identifiers: chr7:g.128852772_128852775del (hg19) ; chr7:g.129212931_129212934del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.129212932_129212935del , CM000669.2:g.129212932_129212935del	GRCh38
NC_000007.13:g.128852773_128852776del , CM000669.1:g.128852773_128852776del	GRCh37
NC_000007.12:g.128640009_128640012del	NCBI36
NG_023340.1:g.29061_29064del
NG_023340.2:g.29061_29064del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249373.8:c.*481_*484del MANE Select	ENSP00000249373.3:n.*481_*484del
ENST00000655644.1:c.*2600_*2603del	ENSP00000499377.1:n.*2600_*2603del
ENST00000249373.7:c.*481_*484del	ENSP00000249373.3:n.*481_*484del
NM_005631.4:c.*481_*484del	NP_005622.1:n.*481_*484del
XM_011516522.1:c.*481_*484del	XP_011514824.1:n.*481_*484del
XM_024446891.1:c.*481_*484del	XP_024302659.1:n.*481_*484del
NM_005631.5:c.*481_*484del MANE Select	NP_005622.1:n.*481_*484del