Canonical Allele Identifier: CA2612222335

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6392004-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392007_6392008del , CM000673.2:g.6392007_6392008del	GRCh38
NC_000011.9:g.6413237_6413238del , CM000673.1:g.6413237_6413238del	GRCh37
NC_000011.8:g.6369813_6369814del	NCBI36
NG_011780.1:g.6583_6584del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.942_943del MANE Select	ENSP00000340409.4:p.Tyr315ProfsTer5
ENST00000342245.8:c.942_943del	ENSP00000340409.4:p.Tyr315ProfsTer5
ENST00000526280.1:c.131_132del
ENST00000527275.5:c.939_940del	ENSP00000435350.1:p.Tyr314ProfsTer5
ENST00000530395.1:c.123_124del	ENSP00000431479.1:p.Tyr42ProfsTer5
ENST00000531303.5:c.438+504_438+505del	ENSP00000432625.1:n.438+504_438+505del
ENST00000533123.5:c.942_943del	ENSP00000435950.1:p.Tyr315ProfsTer5
ENST00000533196.1:n.376_377del
ENST00000534405.5:c.942_943del	ENSP00000434353.1:p.Tyr315ProfsTer5
NM_000543.4:c.942_943del	NP_000534.3:p.Tyr315ProfsTer5
NM_001007593.2:c.939_940del	NP_001007594.2:p.Tyr314ProfsTer5
XM_005253075.3:c.942_943del	XP_005253132.1:p.Tyr315ProfsTer5
XM_011520303.1:c.942_943del	XP_011518605.1:p.Tyr315ProfsTer5
XM_011520304.1:c.942_943del	XP_011518606.1:p.Tyr315ProfsTer5
XR_930886.1:n.1240_1241del
NM_001318087.1:c.942_943del	NP_001305016.1:p.Tyr315ProfsTer5
NM_001318088.1:c.-20_-19del	NP_001305017.1:n.-20_-19del
NM_001365135.1:c.942_943del	NP_001352064.1:p.Tyr315ProfsTer5
NR_027400.2:n.1127_1128del
NR_134502.1:n.623+504_623+505del
XM_011520304.2:c.942_943del	XP_011518606.1:p.Tyr315ProfsTer5
XR_001747940.2:n.1067_1068del
XR_002957158.1:n.1067_1068del
NM_000543.5:c.942_943del MANE Select	NP_000534.3:p.Tyr315ProfsTer5
NM_001007593.3:c.939_940del	NP_001007594.2:p.Tyr314ProfsTer5
NM_001318087.2:c.942_943del	NP_001305016.1:p.Tyr315ProfsTer5
NM_001318088.2:c.-20_-19del	NP_001305017.1:n.-20_-19del
NM_001365135.2:c.942_943del	NP_001352064.1:p.Tyr315ProfsTer5
NR_027400.3:n.1067_1068del
NR_134502.2:n.563+504_563+505del