Canonical Allele Identifier: CA934767900

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6392361-TTG-T
• gnomAD v4: 11-6392361-TTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392363_6392364del , CM000673.2:g.6392363_6392364del	GRCh38
NC_000011.9:g.6413593_6413594del , CM000673.1:g.6413593_6413594del	GRCh37
NC_000011.8:g.6370169_6370170del	NCBI36
NG_011780.1:g.6939_6940del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+207_1091+208del MANE Select	ENSP00000340409.4:n.1091+207_1091+208del
ENST00000342245.8:c.1091+207_1091+208del	ENSP00000340409.4:n.1091+207_1091+208del
ENST00000526280.1:c.320+167_320+168del
ENST00000527275.5:c.1088+207_1088+208del	ENSP00000435350.1:n.1088+207_1088+208del
ENST00000531303.5:c.439-853_439-852del	ENSP00000432625.1:n.439-853_439-852del
ENST00000533123.5:c.1091+207_1091+208del	ENSP00000435950.1:n.1091+207_1091+208del
ENST00000534405.5:c.1131+167_1131+168del	ENSP00000434353.1:n.1131+167_1131+168del
NM_000543.4:c.1091+207_1091+208del	NP_000534.3:n.1091+207_1091+208del
NM_001007593.2:c.1088+207_1088+208del	NP_001007594.2:n.1088+207_1088+208del
XM_005253075.3:c.1091+207_1091+208del	XP_005253132.1:n.1091+207_1091+208del
XM_011520303.1:c.1131+167_1131+168del	XP_011518605.1:n.1131+167_1131+168del
XM_011520304.1:c.1131+167_1131+168del	XP_011518606.1:n.1131+167_1131+168del
XR_930886.1:n.1429+167_1429+168del
NM_001318087.1:c.1091+207_1091+208del	NP_001305016.1:n.1091+207_1091+208del
NM_001318088.1:c.170+167_170+168del	NP_001305017.1:n.170+167_170+168del
NM_001365135.1:c.1131+167_1131+168del	NP_001352064.1:n.1131+167_1131+168del
NR_027400.2:n.1276+207_1276+208del
NR_134502.1:n.624-853_624-852del
XM_011520304.2:c.1131+167_1131+168del	XP_011518606.1:n.1131+167_1131+168del
XR_001747940.2:n.1256+167_1256+168del
XR_002957158.1:n.1256+167_1256+168del
NM_000543.5:c.1091+207_1091+208del MANE Select	NP_000534.3:n.1091+207_1091+208del
NM_001007593.3:c.1088+207_1088+208del	NP_001007594.2:n.1088+207_1088+208del
NM_001318087.2:c.1091+207_1091+208del	NP_001305016.1:n.1091+207_1091+208del
NM_001318088.2:c.170+167_170+168del	NP_001305017.1:n.170+167_170+168del
NM_001365135.2:c.1131+167_1131+168del	NP_001352064.1:n.1131+167_1131+168del
NR_027400.3:n.1216+207_1216+208del
NR_134502.2:n.564-853_564-852del