Canonical Allele Identifier: CA934780002

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6391640-G-GCCACCCCCCCCCC
• gnomAD v4: 11-6391640-G-GCCACCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391642_6391643insACCCCCCCCCCCC , CM000673.2:g.6391642_6391643insACCCCCCCCCCCC	GRCh38
NC_000011.9:g.6412872_6412873insACCCCCCCCCCCC , CM000673.1:g.6412872_6412873insACCCCCCCCCCCC	GRCh37
NC_000011.8:g.6369448_6369449insACCCCCCCCCCCC	NCBI36
NG_011780.1:g.6218_6219insACCCCCCCCCCCC

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.577_578insACCCCCCCCCCCC MANE Select	ENSP00000340409.4:p.Pro193HisfsTer20
ENST00000342245.8:c.577_578insACCCCCCCCCCCC	ENSP00000340409.4:p.Pro193HisfsTer20
ENST00000527275.5:c.574_575insACCCCCCCCCCCC	ENSP00000435350.1:p.Pro192HisfsTer20
ENST00000530395.1:c.-95-148_-95-147insACCCCCCCCCCCC	ENSP00000431479.1:n.-95-148_-95-147insACC...
ENST00000531303.5:c.438+139_438+140insACCCCCCCCCCCC	ENSP00000432625.1:n.438+139_438+140insACC...
ENST00000533123.5:c.577_578insACCCCCCCCCCCC	ENSP00000435950.1:p.Pro193HisfsTer20
ENST00000533196.1:n.375-364_375-363insACCCCCCCCCCCC
ENST00000534405.5:c.577_578insACCCCCCCCCCCC	ENSP00000434353.1:p.Pro193HisfsTer20
NM_000543.4:c.577_578insACCCCCCCCCCCC	NP_000534.3:p.Pro193HisfsTer20
NM_001007593.2:c.574_575insACCCCCCCCCCCC	NP_001007594.2:p.Pro192HisfsTer20
XM_005253075.3:c.577_578insACCCCCCCCCCCC	XP_005253132.1:p.Pro193HisfsTer20
XM_011520303.1:c.577_578insACCCCCCCCCCCC	XP_011518605.1:p.Pro193HisfsTer20
XM_011520304.1:c.577_578insACCCCCCCCCCCC	XP_011518606.1:p.Pro193HisfsTer20
XR_930886.1:n.875_876insACCCCCCCCCCCC
NM_001318087.1:c.577_578insACCCCCCCCCCCC	NP_001305016.1:p.Pro193HisfsTer20
NM_001318088.1:c.-385_-384insACCCCCCCCCCCC	NP_001305017.1:n.-385_-384insACCCCCCCCCCC...
NM_001365135.1:c.577_578insACCCCCCCCCCCC	NP_001352064.1:p.Pro193HisfsTer20
NR_027400.2:n.762_763insACCCCCCCCCCCC
NR_134502.1:n.623+139_623+140insACCCCCCCCCCCC
XM_011520304.2:c.577_578insACCCCCCCCCCCC	XP_011518606.1:p.Pro193HisfsTer20
XR_001747940.2:n.702_703insACCCCCCCCCCCC
XR_002957158.1:n.702_703insACCCCCCCCCCCC
NM_000543.5:c.577_578insACCCCCCCCCCCC MANE Select	NP_000534.3:p.Pro193HisfsTer20
NM_001007593.3:c.574_575insACCCCCCCCCCCC	NP_001007594.2:p.Pro192HisfsTer20
NM_001318087.2:c.577_578insACCCCCCCCCCCC	NP_001305016.1:p.Pro193HisfsTer20
NM_001318088.2:c.-385_-384insACCCCCCCCCCCC	NP_001305017.1:n.-385_-384insACCCCCCCCCCC...
NM_001365135.2:c.577_578insACCCCCCCCCCCC	NP_001352064.1:p.Pro193HisfsTer20
NR_027400.3:n.702_703insACCCCCCCCCCCC
NR_134502.2:n.563+139_563+140insACCCCCCCCCCCC