Canonical Allele Identifier: CA653943673

Gene: SMPD1

Linked Data

• COSMIC: COSN22850560 ; COSN22850561

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394640_6394642del , CM000673.2:g.6394640_6394642del	GRCh38
NC_000011.9:g.6415870_6415872del , CM000673.1:g.6415870_6415872del	GRCh37
NC_000011.8:g.6372446_6372448del	NCBI36
NG_011780.1:g.9216_9218del
NG_029615.1:g.29775_29777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*33_*35del MANE Select	ENSP00000340409.4:n.*33_*35del
ENST00000342245.8:c.*33_*35del	ENSP00000340409.4:n.*33_*35del
ENST00000526280.1:c.986_988del
ENST00000527275.5:c.*33_*35del	ENSP00000435350.1:n.*33_*35del
ENST00000531303.5:c.*780_*782del	ENSP00000432625.1:n.*780_*782del
ENST00000533123.5:c.*656_*658del	ENSP00000435950.1:n.*656_*658del
ENST00000534405.5:c.*760_*762del	ENSP00000434353.1:n.*760_*762del
NM_000543.4:c.*33_*35del	NP_000534.3:n.*33_*35del
NM_001007593.2:c.*33_*35del	NP_001007594.2:n.*33_*35del
XM_011520303.1:c.*33_*35del	XP_011518605.1:n.*33_*35del
NM_001318087.1:c.*422_*424del	NP_001305016.1:n.*422_*424del
NM_001318088.1:c.*33_*35del	NP_001305017.1:n.*33_*35del
NM_001365135.1:c.*33_*35del	NP_001352064.1:n.*33_*35del
NR_027400.2:n.1942_1944del
NR_134502.1:n.1481_1483del
XR_001747940.2:n.2114_2116del
XR_002957158.1:n.2296_2298del
NM_000543.5:c.*33_*35del MANE Select	NP_000534.3:n.*33_*35del
NM_001007593.3:c.*33_*35del	NP_001007594.2:n.*33_*35del
NM_001318087.2:c.*422_*424del	NP_001305016.1:n.*422_*424del
NM_001318088.2:c.*33_*35del	NP_001305017.1:n.*33_*35del
NM_001365135.2:c.*33_*35del	NP_001352064.1:n.*33_*35del
NR_027400.3:n.1882_1884del
NR_134502.2:n.1421_1423del