Canonical Allele Identifier: CA912972820

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415271_6415275del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394042_6394046del , CM000673.2:g.6394042_6394046del	GRCh38
NC_000011.9:g.6415272_6415276del , CM000673.1:g.6415272_6415276del	GRCh37
NC_000011.8:g.6371848_6371852del	NCBI36
NG_011780.1:g.8618_8622del
NG_029615.1:g.30370_30374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1486+1_1486+5del
ENST00000342245.8:c.1486+1_1486+5del
ENST00000526280.1:c.543+1_543+5del
ENST00000527275.5:c.1483+1_1483+5del
ENST00000531303.5:c.*317+1_*317+5del
ENST00000531336.1:n.319_323del
ENST00000532367.1:n.323_327del
ENST00000533123.5:c.*213+1_*213+5del
ENST00000534405.5:c.*317+1_*317+5del
NM_000543.4:c.1486+1_1486+5del
NM_001007593.2:c.1483+1_1483+5del
XM_005253075.3:c.1486+1_1486+5del
XM_011520303.1:c.1354+1_1354+5del
XM_011520304.1:c.1354+1_1354+5del
NM_001318087.1:c.1486+1_1486+5del
NM_001318088.1:c.565+1_565+5del
NM_001365135.1:c.1354+1_1354+5del
NR_027400.2:n.1499+1_1499+5del
NR_134502.1:n.1018+1_1018+5del
XM_011520304.2:c.1354+1_1354+5del
XR_001747940.2:n.1651+1_1651+5del
XR_002957158.1:n.1853+1_1853+5del
NM_000543.5:c.1486+1_1486+5del
NM_001007593.3:c.1483+1_1483+5del
NM_001318087.2:c.1486+1_1486+5del
NM_001318088.2:c.565+1_565+5del
NM_001365135.2:c.1354+1_1354+5del
NR_027400.3:n.1439+1_1439+5del
NR_134502.2:n.958+1_958+5del