Canonical Allele Identifier: CA2612222802

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393209-GTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393211_6393212del , CM000673.2:g.6393211_6393212del	GRCh38
NC_000011.9:g.6414441_6414442del , CM000673.1:g.6414441_6414442del	GRCh37
NC_000011.8:g.6371017_6371018del	NCBI36
NG_011780.1:g.7787_7788del
NG_029615.1:g.31204_31205del

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1092-5_1092-4del MANE Select	ENSP00000340409.4:n.1092-5_1092-4del
ENST00000342245.8:c.1092-5_1092-4del	ENSP00000340409.4:n.1092-5_1092-4del
ENST00000526280.1:c.321-406_321-405del
ENST00000527275.5:c.1089-5_1089-4del	ENSP00000435350.1:n.1089-5_1089-4del
ENST00000531303.5:c.439-5_439-4del	ENSP00000432625.1:n.439-5_439-4del
ENST00000533123.5:c.1092-406_1092-405del	ENSP00000435950.1:n.1092-406_1092-405del
ENST00000534405.5:c.1132-5_1132-4del	ENSP00000434353.1:n.1132-5_1132-4del
NM_000543.4:c.1092-5_1092-4del	NP_000534.3:n.1092-5_1092-4del
NM_001007593.2:c.1089-5_1089-4del	NP_001007594.2:n.1089-5_1089-4del
XM_005253075.3:c.1092-5_1092-4del	XP_005253132.1:n.1092-5_1092-4del
XM_011520303.1:c.1132-406_1132-405del	XP_011518605.1:n.1132-406_1132-405del
XM_011520304.1:c.1132-406_1132-405del	XP_011518606.1:n.1132-406_1132-405del
XR_930886.1:n.1430-5_1430-4del
NM_001318087.1:c.1092-5_1092-4del	NP_001305016.1:n.1092-5_1092-4del
NM_001318088.1:c.171-5_171-4del	NP_001305017.1:n.171-5_171-4del
NM_001365135.1:c.1132-406_1132-405del	NP_001352064.1:n.1132-406_1132-405del
NR_027400.2:n.1277-406_1277-405del
NR_134502.1:n.624-5_624-4del
XM_011520304.2:c.1132-406_1132-405del	XP_011518606.1:n.1132-406_1132-405del
XR_001747940.2:n.1257-5_1257-4del
XR_002957158.1:n.1257-5_1257-4del
NM_000543.5:c.1092-5_1092-4del MANE Select	NP_000534.3:n.1092-5_1092-4del
NM_001007593.3:c.1089-5_1089-4del	NP_001007594.2:n.1089-5_1089-4del
NM_001318087.2:c.1092-5_1092-4del	NP_001305016.1:n.1092-5_1092-4del
NM_001318088.2:c.171-5_171-4del	NP_001305017.1:n.171-5_171-4del
NM_001365135.2:c.1132-406_1132-405del	NP_001352064.1:n.1132-406_1132-405del
NR_027400.3:n.1217-406_1217-405del
NR_134502.2:n.564-5_564-4del