Canonical Allele Identifier: CA313479688

Gene: GSS

Linked Data

• dbSNP Id: rs757309392
• gnomAD v2: 20-33523047-GGCAGGAAAAAAAATGGTCA-G
• gnomAD v3: 20-34935244-GGCAGGAAAAAAAATGGTCA-G
• gnomAD v4: 20-34935244-GGCAGGAAAAAAAATGGTCA-G
• MyVariant Identifiers: chr20:g.33523048_33523066del (hg19) ; chr20:g.34935245_34935263del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935249_34935267del , CM000682.2:g.34935249_34935267del	GRCh38
NC_000020.10:g.33523052_33523070del , CM000682.1:g.33523052_33523070del	GRCh37
NC_000020.9:g.32986713_32986731del	NCBI36
NG_008848.1:g.25536_25554del
NG_008848.2:g.25765_25783del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*474+1500_*474+1518del	ENSP00000493524.1:n.*474+1500_*474+1518del
ENST00000642498.1:c.834+313_834+331del	ENSP00000493631.1:n.834+313_834+331del
ENST00000642538.1:c.*178+313_*178+331del	ENSP00000493927.1:n.*178+313_*178+331del
ENST00000643188.1:c.834+313_834+331del	ENSP00000493903.1:n.834+313_834+331del
ENST00000643443.1:c.*541+313_*541+331del	ENSP00000495572.1:n.*541+313_*541+331del
ENST00000643502.1:c.491+313_491+331del
ENST00000643908.1:n.1052+1680_1052+1698del
ENST00000644538.1:n.1111+313_1111+331del
ENST00000644793.1:c.834+313_834+331del	ENSP00000495750.1:n.834+313_834+331del
ENST00000645328.1:c.212+313_212+331del
ENST00000645408.1:c.367+1500_367+1518del
ENST00000645723.1:n.2073+313_2073+331del
ENST00000646405.1:c.*252+1500_*252+1518del	ENSP00000493744.1:n.*252+1500_*252+1518del
ENST00000646497.1:n.779+313_779+331del
ENST00000646502.1:n.1316+313_1316+331del
ENST00000646512.1:n.980+1500_980+1518del
ENST00000646735.1:c.501+313_501+331del	ENSP00000493763.1:n.501+313_501+331del
ENST00000651619.1:c.834+313_834+331del MANE Select	ENSP00000498303.1:n.834+313_834+331del
ENST00000216951.6:c.834+313_834+331del	ENSP00000216951.2:n.834+313_834+331del
ENST00000451957.2:c.501+313_501+331del	ENSP00000407517.2:n.501+313_501+331del
NM_000178.2:c.834+313_834+331del	NP_000169.1:n.834+313_834+331del
XM_005260406.3:c.834+313_834+331del	XP_005260463.1:n.834+313_834+331del
XM_011528796.1:c.834+313_834+331del	XP_011527098.1:n.834+313_834+331del
NM_000178.4:c.834+313_834+331del MANE Select	NP_000169.1:n.834+313_834+331del
NM_001322494.1:c.834+313_834+331del	NP_001309423.1:n.834+313_834+331del
NM_001322495.1:c.834+313_834+331del	NP_001309424.1:n.834+313_834+331del