Canonical Allele Identifier: CA1950149212

Gene: SMPD1

Linked Data

• dbSNP Id: rs1848072999
• gnomAD v3: 11-6394094-AAGG-A
• gnomAD v4: 11-6394094-AAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394098_6394100del , CM000673.2:g.6394098_6394100del	GRCh38
NC_000011.9:g.6415328_6415330del , CM000673.1:g.6415328_6415330del	GRCh37
NC_000011.8:g.6371904_6371906del	NCBI36
NG_011780.1:g.8674_8676del
NG_029615.1:g.30318_30320del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1486+57_1486+59del MANE Select	ENSP00000340409.4:n.1486+57_1486+59del
ENST00000342245.8:c.1486+57_1486+59del	ENSP00000340409.4:n.1486+57_1486+59del
ENST00000526280.1:c.543+57_543+59del
ENST00000527275.5:c.1483+57_1483+59del	ENSP00000435350.1:n.1483+57_1483+59del
ENST00000531303.5:c.*317+57_*317+59del	ENSP00000432625.1:n.*317+57_*317+59del
ENST00000531336.1:n.375_377del
ENST00000532367.1:n.379_381del
ENST00000533123.5:c.*213+57_*213+59del	ENSP00000435950.1:n.*213+57_*213+59del
ENST00000534405.5:c.*317+57_*317+59del	ENSP00000434353.1:n.*317+57_*317+59del
NM_000543.4:c.1486+57_1486+59del	NP_000534.3:n.1486+57_1486+59del
NM_001007593.2:c.1483+57_1483+59del	NP_001007594.2:n.1483+57_1483+59del
XM_005253075.3:c.1486+57_1486+59del	XP_005253132.1:n.1486+57_1486+59del
XM_011520303.1:c.1354+57_1354+59del	XP_011518605.1:n.1354+57_1354+59del
XM_011520304.1:c.1354+57_1354+59del	XP_011518606.1:n.1354+57_1354+59del
NM_001318087.1:c.1486+57_1486+59del	NP_001305016.1:n.1486+57_1486+59del
NM_001318088.1:c.565+57_565+59del	NP_001305017.1:n.565+57_565+59del
NM_001365135.1:c.1354+57_1354+59del	NP_001352064.1:n.1354+57_1354+59del
NR_027400.2:n.1499+57_1499+59del
NR_134502.1:n.1018+57_1018+59del
XM_011520304.2:c.1354+57_1354+59del	XP_011518606.1:n.1354+57_1354+59del
XR_001747940.2:n.1651+57_1651+59del
XR_002957158.1:n.1853+57_1853+59del
NM_000543.5:c.1486+57_1486+59del MANE Select	NP_000534.3:n.1486+57_1486+59del
NM_001007593.3:c.1483+57_1483+59del	NP_001007594.2:n.1483+57_1483+59del
NM_001318087.2:c.1486+57_1486+59del	NP_001305016.1:n.1486+57_1486+59del
NM_001318088.2:c.565+57_565+59del	NP_001305017.1:n.565+57_565+59del
NM_001365135.2:c.1354+57_1354+59del	NP_001352064.1:n.1354+57_1354+59del
NR_027400.3:n.1439+57_1439+59del
NR_134502.2:n.958+57_958+59del