Canonical Allele Identifier: CA934767672

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6392347-TTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCC-T
• gnomAD v4: 11-6392347-TTTTAGTTTAGTTTTTGTAGAGACAAGATCTTGCTATGTTGCCCAGGCTGGTCTCAAACACCTAACCTCAAGCAATCCTCCCGCCTCGGCCTCCCAAAATGCTGGGACCACAGGCATCAGCTACTGCTCCTGGCCCTCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392351_6392489del , CM000673.2:g.6392351_6392489del	GRCh38
NC_000011.9:g.6413581_6413719del , CM000673.1:g.6413581_6413719del	GRCh37
NC_000011.8:g.6370157_6370295del	NCBI36
NG_011780.1:g.6927_7065del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+195_1091+333del MANE Select	ENSP00000340409.4:n.1091+195_1091+333del
ENST00000342245.8:c.1091+195_1091+333del	ENSP00000340409.4:n.1091+195_1091+333del
ENST00000526280.1:c.320+155_320+293del
ENST00000527275.5:c.1088+195_1088+333del	ENSP00000435350.1:n.1088+195_1088+333del
ENST00000531303.5:c.438+848_439-727del	ENSP00000432625.1:n.438+848_439-727del
ENST00000533123.5:c.1091+195_1091+333del	ENSP00000435950.1:n.1091+195_1091+333del
ENST00000534405.5:c.1131+155_1131+293del	ENSP00000434353.1:n.1131+155_1131+293del
NM_000543.4:c.1091+195_1091+333del	NP_000534.3:n.1091+195_1091+333del
NM_001007593.2:c.1088+195_1088+333del	NP_001007594.2:n.1088+195_1088+333del
XM_005253075.3:c.1091+195_1091+333del	XP_005253132.1:n.1091+195_1091+333del
XM_011520303.1:c.1131+155_1131+293del	XP_011518605.1:n.1131+155_1131+293del
XM_011520304.1:c.1131+155_1131+293del	XP_011518606.1:n.1131+155_1131+293del
XR_930886.1:n.1429+155_1429+293del
NM_001318087.1:c.1091+195_1091+333del	NP_001305016.1:n.1091+195_1091+333del
NM_001318088.1:c.170+155_170+293del	NP_001305017.1:n.170+155_170+293del
NM_001365135.1:c.1131+155_1131+293del	NP_001352064.1:n.1131+155_1131+293del
NR_027400.2:n.1276+195_1276+333del
NR_134502.1:n.623+848_624-727del
XM_011520304.2:c.1131+155_1131+293del	XP_011518606.1:n.1131+155_1131+293del
XR_001747940.2:n.1256+155_1256+293del
XR_002957158.1:n.1256+155_1256+293del
NM_000543.5:c.1091+195_1091+333del MANE Select	NP_000534.3:n.1091+195_1091+333del
NM_001007593.3:c.1088+195_1088+333del	NP_001007594.2:n.1088+195_1088+333del
NM_001318087.2:c.1091+195_1091+333del	NP_001305016.1:n.1091+195_1091+333del
NM_001318088.2:c.170+155_170+293del	NP_001305017.1:n.170+155_170+293del
NM_001365135.2:c.1131+155_1131+293del	NP_001352064.1:n.1131+155_1131+293del
NR_027400.3:n.1216+195_1216+333del
NR_134502.2:n.563+848_564-727del