Canonical Allele Identifier: CA2612223446

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394089-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394093del , CM000673.2:g.6394093del	GRCh38
NC_000011.9:g.6415323del , CM000673.1:g.6415323del	GRCh37
NC_000011.8:g.6371899del	NCBI36
NG_011780.1:g.8669del
NG_029615.1:g.30325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1486+52del MANE Select	ENSP00000340409.4:n.1486+52del
ENST00000342245.8:c.1486+52del	ENSP00000340409.4:n.1486+52del
ENST00000526280.1:c.543+52del
ENST00000527275.5:c.1483+52del	ENSP00000435350.1:n.1483+52del
ENST00000531303.5:c.*317+52del	ENSP00000432625.1:n.*317+52del
ENST00000531336.1:n.370del
ENST00000532367.1:n.374del
ENST00000533123.5:c.*213+52del	ENSP00000435950.1:n.*213+52del
ENST00000534405.5:c.*317+52del	ENSP00000434353.1:n.*317+52del
NM_000543.4:c.1486+52del	NP_000534.3:n.1486+52del
NM_001007593.2:c.1483+52del	NP_001007594.2:n.1483+52del
XM_005253075.3:c.1486+52del	XP_005253132.1:n.1486+52del
XM_011520303.1:c.1354+52del	XP_011518605.1:n.1354+52del
XM_011520304.1:c.1354+52del	XP_011518606.1:n.1354+52del
NM_001318087.1:c.1486+52del	NP_001305016.1:n.1486+52del
NM_001318088.1:c.565+52del	NP_001305017.1:n.565+52del
NM_001365135.1:c.1354+52del	NP_001352064.1:n.1354+52del
NR_027400.2:n.1499+52del
NR_134502.1:n.1018+52del
XM_011520304.2:c.1354+52del	XP_011518606.1:n.1354+52del
XR_001747940.2:n.1651+52del
XR_002957158.1:n.1853+52del
NM_000543.5:c.1486+52del MANE Select	NP_000534.3:n.1486+52del
NM_001007593.3:c.1483+52del	NP_001007594.2:n.1483+52del
NM_001318087.2:c.1486+52del	NP_001305016.1:n.1486+52del
NM_001318088.2:c.565+52del	NP_001305017.1:n.565+52del
NM_001365135.2:c.1354+52del	NP_001352064.1:n.1354+52del
NR_027400.3:n.1439+52del
NR_134502.2:n.958+52del