Canonical Allele Identifier: CA2740093621

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2921430
• ClinVar RCV Id: RCV003780012

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394194_6394210del , CM000673.2:g.6394194_6394210del	GRCh38
NC_000011.9:g.6415424_6415440del , CM000673.1:g.6415424_6415440del	GRCh37
NC_000011.8:g.6372000_6372016del	NCBI36
NG_011780.1:g.8770_8786del
NG_029615.1:g.30205_30221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1487-4_1499del
ENST00000342245.8:c.1487-4_1499del
ENST00000526280.1:c.544-4_556del
ENST00000527275.5:c.1484-4_1496del
ENST00000531303.5:c.*334_*350del	ENSP00000432625.1:n.*334_*350del
ENST00000531336.1:n.471_487del
ENST00000533123.5:c.*214-4_*226del
ENST00000534405.5:c.*318-4_*330del
NM_000543.4:c.1487-4_1499del
NM_001007593.2:c.1484-4_1496del
XM_005253075.3:c.1503_1519del	XP_005253132.1:p.Leu501PhefsTer?
XM_011520303.1:c.1355-4_1367del
XM_011520304.1:c.1371_1387del	XP_011518606.1:p.Leu457PhefsTer?
NM_001318087.1:c.1503_1519del	NP_001305016.1:p.Leu501PhefsTer?
NM_001318088.1:c.566-4_578del
NM_001365135.1:c.1355-4_1367del
NR_027400.2:n.1500-4_1512del
NR_134502.1:n.1035_1051del
XM_011520304.2:c.1371_1387del	XP_011518606.1:p.Leu457PhefsTer?
XR_001747940.2:n.1668_1684del
XR_002957158.1:n.1854-4_1866del
NM_000543.5:c.1487-4_1499del
NM_001007593.3:c.1484-4_1496del
NM_001318087.2:c.1503_1519del	NP_001305016.1:p.Leu501PhefsTer?
NM_001318088.2:c.566-4_578del
NM_001365135.2:c.1355-4_1367del
NR_027400.3:n.1440-4_1452del
NR_134502.2:n.975_991del