Canonical Allele Identifier: CA2612224273

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394780-TGGGAGGGGGTTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394782_6394794del , CM000673.2:g.6394782_6394794del	GRCh38
NC_000011.9:g.6416012_6416024del , CM000673.1:g.6416012_6416024del	GRCh37
NC_000011.8:g.6372588_6372600del	NCBI36
NG_011780.1:g.9358_9370del
NG_029615.1:g.29622_29634del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*175_*187del MANE Select	ENSP00000340409.4:n.*175_*187del
ENST00000342245.8:c.*175_*187del	ENSP00000340409.4:n.*175_*187del
ENST00000526280.1:c.1128_1140del
ENST00000533123.5:c.*798_*810del	ENSP00000435950.1:n.*798_*810del
ENST00000534405.5:c.*902_*914del	ENSP00000434353.1:n.*902_*914del
NM_000543.4:c.*175_*187del	NP_000534.3:n.*175_*187del
NM_001007593.2:c.*175_*187del	NP_001007594.2:n.*175_*187del
XM_011520303.1:c.*175_*187del	XP_011518605.1:n.*175_*187del
NM_001318087.1:c.*564_*576del	NP_001305016.1:n.*564_*576del
NM_001318088.1:c.*175_*187del	NP_001305017.1:n.*175_*187del
NM_001365135.1:c.*175_*187del	NP_001352064.1:n.*175_*187del
NR_027400.2:n.2084_2096del
NR_134502.1:n.1623_1635del
XR_001747940.2:n.2256_2268del
XR_002957158.1:n.2438_2450del
NM_000543.5:c.*175_*187del MANE Select	NP_000534.3:n.*175_*187del
NM_001007593.3:c.*175_*187del	NP_001007594.2:n.*175_*187del
NM_001318087.2:c.*564_*576del	NP_001305016.1:n.*564_*576del
NM_001318088.2:c.*175_*187del	NP_001305017.1:n.*175_*187del
NM_001365135.2:c.*175_*187del	NP_001352064.1:n.*175_*187del
NR_027400.3:n.2024_2036del
NR_134502.2:n.1563_1575del