Canonical Allele Identifier: CA5853013

Gene: SMPD1

Linked Data

• dbSNP Id: rs775215131
• ExAC: 11:6415876 GA / G
• gnomAD v2: 11-6415876-GA-G
• gnomAD v3: 11-6394646-GA-G
• gnomAD v4: 11-6394646-GA-G
• MyVariant Identifiers: chr11:g.6415877del (hg19) ; chr11:g.6394647del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394649del , CM000673.2:g.6394649del	GRCh38
NC_000011.9:g.6415879del , CM000673.1:g.6415879del	GRCh37
NC_000011.8:g.6372455del	NCBI36
NG_011780.1:g.9225del
NG_029615.1:g.29768del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*42del MANE Select	ENSP00000340409.4:n.*42del
ENST00000342245.8:c.*42del	ENSP00000340409.4:n.*42del
ENST00000526280.1:c.995del
ENST00000527275.5:c.*42del	ENSP00000435350.1:n.*42del
ENST00000531303.5:c.*789del	ENSP00000432625.1:n.*789del
ENST00000533123.5:c.*665del	ENSP00000435950.1:n.*665del
ENST00000534405.5:c.*769del	ENSP00000434353.1:n.*769del
NM_000543.4:c.*42del	NP_000534.3:n.*42del
NM_001007593.2:c.*42del	NP_001007594.2:n.*42del
XM_011520303.1:c.*42del	XP_011518605.1:n.*42del
NM_001318087.1:c.*431del	NP_001305016.1:n.*431del
NM_001318088.1:c.*42del	NP_001305017.1:n.*42del
NM_001365135.1:c.*42del	NP_001352064.1:n.*42del
NR_027400.2:n.1951del
NR_134502.1:n.1490del
XR_001747940.2:n.2123del
XR_002957158.1:n.2305del
NM_000543.5:c.*42del MANE Select	NP_000534.3:n.*42del
NM_001007593.3:c.*42del	NP_001007594.2:n.*42del
NM_001318087.2:c.*431del	NP_001305016.1:n.*431del
NM_001318088.2:c.*42del	NP_001305017.1:n.*42del
NM_001365135.2:c.*42del	NP_001352064.1:n.*42del
NR_027400.3:n.1891del
NR_134502.2:n.1430del