Canonical Allele Identifier: CA2612224413

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394881-CAGACAAGACAGGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394882_6394895del , CM000673.2:g.6394882_6394895del	GRCh38
NC_000011.9:g.6416112_6416125del , CM000673.1:g.6416112_6416125del	GRCh37
NC_000011.8:g.6372688_6372701del	NCBI36
NG_011780.1:g.9458_9471del
NG_029615.1:g.29520_29533del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*275_*288del MANE Select	ENSP00000340409.4:n.*275_*288del
ENST00000342245.8:c.*275_*288del	ENSP00000340409.4:n.*275_*288del
ENST00000526280.1:c.1228_1241del
ENST00000533123.5:c.*898_*911del	ENSP00000435950.1:n.*898_*911del
ENST00000534405.5:c.*1002_*1015del	ENSP00000434353.1:n.*1002_*1015del
NM_000543.4:c.*275_*288del	NP_000534.3:n.*275_*288del
NM_001007593.2:c.*275_*288del	NP_001007594.2:n.*275_*288del
XM_011520303.1:c.*275_*288del	XP_011518605.1:n.*275_*288del
NM_001318087.1:c.*664_*677del	NP_001305016.1:n.*664_*677del
NM_001318088.1:c.*275_*288del	NP_001305017.1:n.*275_*288del
NM_001365135.1:c.*275_*288del	NP_001352064.1:n.*275_*288del
NR_027400.2:n.2184_2197del
NR_134502.1:n.1723_1736del
XR_001747940.2:n.2356_2369del
XR_002957158.1:n.2538_2551del
NM_000543.5:c.*275_*288del MANE Select	NP_000534.3:n.*275_*288del
NM_001007593.3:c.*275_*288del	NP_001007594.2:n.*275_*288del
NM_001318087.2:c.*664_*677del	NP_001305016.1:n.*664_*677del
NM_001318088.2:c.*275_*288del	NP_001305017.1:n.*275_*288del
NM_001365135.2:c.*275_*288del	NP_001352064.1:n.*275_*288del
NR_027400.3:n.2124_2137del
NR_134502.2:n.1663_1676del