Canonical Allele Identifier: CA2612224313

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394810-A-AGTGTCAACTTAGGCCTCTACTCCATG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394811_6394812insTGTCAACTTAGGCCTCTACTCCATGG , CM000673.2:g.6394811_6394812insTGTCAACTTAGGCCTCTACTCCATGG	GRCh38
NC_000011.9:g.6416041_6416042insTGTCAACTTAGGCCTCTACTCCATGG , CM000673.1:g.6416041_6416042insTGTCAACTTAGGCCTCTACTCCATGG	GRCh37
NC_000011.8:g.6372617_6372618insTGTCAACTTAGGCCTCTACTCCATGG	NCBI36
NG_011780.1:g.9387_9388insTGTCAACTTAGGCCTCTACTCCATGG
NG_029615.1:g.29604_29605insCATGGAGTAGAGGCCTAAGTTGACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG MANE Select	ENSP00000340409.4:n.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG
ENST00000342245.8:c.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG	ENSP00000340409.4:n.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG
ENST00000526280.1:c.1157_1158insTGTCAACTTAGGCCTCTACTCCATGG
ENST00000533123.5:c.*827_*828insTGTCAACTTAGGCCTCTACTCCATGG	ENSP00000435950.1:n.*827_*828insTGTCAACTTAGGCCTCTACTCCATGG
ENST00000534405.5:c.*931_*932insTGTCAACTTAGGCCTCTACTCCATGG	ENSP00000434353.1:n.*931_*932insTGTCAACTTAGGCCTCTACTCCATGG
NM_000543.4:c.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG	NP_000534.3:n.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG
NM_001007593.2:c.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG	NP_001007594.2:n.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG
XM_011520303.1:c.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG	XP_011518605.1:n.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG
NM_001318087.1:c.*593_*594insTGTCAACTTAGGCCTCTACTCCATGG	NP_001305016.1:n.*593_*594insTGTCAACTTAGGCCTCTACTCCATGG
NM_001318088.1:c.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG	NP_001305017.1:n.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG
NM_001365135.1:c.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG	NP_001352064.1:n.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG
NR_027400.2:n.2113_2114insTGTCAACTTAGGCCTCTACTCCATGG
NR_134502.1:n.1652_1653insTGTCAACTTAGGCCTCTACTCCATGG
XR_001747940.2:n.2285_2286insTGTCAACTTAGGCCTCTACTCCATGG
XR_002957158.1:n.2467_2468insTGTCAACTTAGGCCTCTACTCCATGG
NM_000543.5:c.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG MANE Select	NP_000534.3:n.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG
NM_001007593.3:c.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG	NP_001007594.2:n.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG
NM_001318087.2:c.*593_*594insTGTCAACTTAGGCCTCTACTCCATGG	NP_001305016.1:n.*593_*594insTGTCAACTTAGGCCTCTACTCCATGG
NM_001318088.2:c.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG	NP_001305017.1:n.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG
NM_001365135.2:c.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG	NP_001352064.1:n.*204_*205insTGTCAACTTAGGCCTCTACTCCATGG
NR_027400.3:n.2053_2054insTGTCAACTTAGGCCTCTACTCCATGG
NR_134502.2:n.1592_1593insTGTCAACTTAGGCCTCTACTCCATGG