Canonical Allele Identifier: CA2612220832

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390427-CAGAGGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390436_6390441del , CM000673.2:g.6390436_6390441del	GRCh38
NC_000011.9:g.6411666_6411671del , CM000673.1:g.6411666_6411671del	GRCh37
NC_000011.8:g.6368242_6368247del	NCBI36
NG_011780.1:g.5012_5017del

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.4:c.-163_-158del	NP_000534.3:n.-163_-158del
NM_001007593.2:c.-163_-158del	NP_001007594.2:n.-163_-158del
XM_005253075.3:c.-163_-158del	XP_005253132.1:n.-163_-158del
XM_011520303.1:c.-163_-158del	XP_011518605.1:n.-163_-158del
XM_011520304.1:c.-163_-158del	XP_011518606.1:n.-163_-158del
XR_930886.1:n.136_141del
NM_001318087.1:c.-163_-158del	NP_001305016.1:n.-163_-158del
NM_001318088.1:c.-1124_-1119del	NP_001305017.1:n.-1124_-1119del
NR_027400.2:n.23_28del
NR_134502.1:n.23_28del