Canonical Allele Identifier: CA934767818

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6392354-TTAG-T
• gnomAD v4: 11-6392354-TTAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392356_6392358del , CM000673.2:g.6392356_6392358del	GRCh38
NC_000011.9:g.6413586_6413588del , CM000673.1:g.6413586_6413588del	GRCh37
NC_000011.8:g.6370162_6370164del	NCBI36
NG_011780.1:g.6932_6934del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+200_1091+202del MANE Select	ENSP00000340409.4:n.1091+200_1091+202del
ENST00000342245.8:c.1091+200_1091+202del	ENSP00000340409.4:n.1091+200_1091+202del
ENST00000526280.1:c.320+160_320+162del
ENST00000527275.5:c.1088+200_1088+202del	ENSP00000435350.1:n.1088+200_1088+202del
ENST00000531303.5:c.438+853_438+855del	ENSP00000432625.1:n.438+853_438+855del
ENST00000533123.5:c.1091+200_1091+202del	ENSP00000435950.1:n.1091+200_1091+202del
ENST00000534405.5:c.1131+160_1131+162del	ENSP00000434353.1:n.1131+160_1131+162del
NM_000543.4:c.1091+200_1091+202del	NP_000534.3:n.1091+200_1091+202del
NM_001007593.2:c.1088+200_1088+202del	NP_001007594.2:n.1088+200_1088+202del
XM_005253075.3:c.1091+200_1091+202del	XP_005253132.1:n.1091+200_1091+202del
XM_011520303.1:c.1131+160_1131+162del	XP_011518605.1:n.1131+160_1131+162del
XM_011520304.1:c.1131+160_1131+162del	XP_011518606.1:n.1131+160_1131+162del
XR_930886.1:n.1429+160_1429+162del
NM_001318087.1:c.1091+200_1091+202del	NP_001305016.1:n.1091+200_1091+202del
NM_001318088.1:c.170+160_170+162del	NP_001305017.1:n.170+160_170+162del
NM_001365135.1:c.1131+160_1131+162del	NP_001352064.1:n.1131+160_1131+162del
NR_027400.2:n.1276+200_1276+202del
NR_134502.1:n.623+853_623+855del
XM_011520304.2:c.1131+160_1131+162del	XP_011518606.1:n.1131+160_1131+162del
XR_001747940.2:n.1256+160_1256+162del
XR_002957158.1:n.1256+160_1256+162del
NM_000543.5:c.1091+200_1091+202del MANE Select	NP_000534.3:n.1091+200_1091+202del
NM_001007593.3:c.1088+200_1088+202del	NP_001007594.2:n.1088+200_1088+202del
NM_001318087.2:c.1091+200_1091+202del	NP_001305016.1:n.1091+200_1091+202del
NM_001318088.2:c.170+160_170+162del	NP_001305017.1:n.170+160_170+162del
NM_001365135.2:c.1131+160_1131+162del	NP_001352064.1:n.1131+160_1131+162del
NR_027400.3:n.1216+200_1216+202del
NR_134502.2:n.563+853_563+855del