Canonical Allele Identifier: CA1017157170

Gene: GSS

Linked Data

• dbSNP Id: rs2081432693
• gnomAD v3: 20-34935349-ATGGCTGAAGC-A
• gnomAD v4: 20-34935349-ATGGCTGAAGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34935351_34935360del , CM000682.2:g.34935351_34935360del	GRCh38
NC_000020.10:g.33523154_33523163del , CM000682.1:g.33523154_33523163del	GRCh37
NC_000020.9:g.32986815_32986824del	NCBI36
NG_008848.1:g.25440_25449del
NG_008848.2:g.25669_25678del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000642493.1:c.*474+1404_*474+1413del	ENSP00000493524.1:n.*474+1404_*474+1413del
ENST00000642498.1:c.834+217_834+226del	ENSP00000493631.1:n.834+217_834+226del
ENST00000642538.1:c.*178+217_*178+226del	ENSP00000493927.1:n.*178+217_*178+226del
ENST00000643188.1:c.834+217_834+226del	ENSP00000493903.1:n.834+217_834+226del
ENST00000643443.1:c.*541+217_*541+226del	ENSP00000495572.1:n.*541+217_*541+226del
ENST00000643502.1:c.491+217_491+226del
ENST00000643908.1:n.1052+1584_1052+1593del
ENST00000644538.1:n.1111+217_1111+226del
ENST00000644793.1:c.834+217_834+226del	ENSP00000495750.1:n.834+217_834+226del
ENST00000645328.1:c.212+217_212+226del
ENST00000645408.1:c.367+1404_367+1413del
ENST00000645723.1:n.2073+217_2073+226del
ENST00000646405.1:c.*252+1404_*252+1413del	ENSP00000493744.1:n.*252+1404_*252+1413del
ENST00000646497.1:n.779+217_779+226del
ENST00000646502.1:n.1316+217_1316+226del
ENST00000646512.1:n.980+1404_980+1413del
ENST00000646735.1:c.501+217_501+226del	ENSP00000493763.1:n.501+217_501+226del
ENST00000651619.1:c.834+217_834+226del MANE Select	ENSP00000498303.1:n.834+217_834+226del
ENST00000216951.6:c.834+217_834+226del	ENSP00000216951.2:n.834+217_834+226del
ENST00000451957.2:c.501+217_501+226del	ENSP00000407517.2:n.501+217_501+226del
NM_000178.2:c.834+217_834+226del	NP_000169.1:n.834+217_834+226del
XM_005260406.3:c.834+217_834+226del	XP_005260463.1:n.834+217_834+226del
XM_011528796.1:c.834+217_834+226del	XP_011527098.1:n.834+217_834+226del
NM_000178.4:c.834+217_834+226del MANE Select	NP_000169.1:n.834+217_834+226del
NM_001322494.1:c.834+217_834+226del	NP_001309423.1:n.834+217_834+226del
NM_001322495.1:c.834+217_834+226del	NP_001309424.1:n.834+217_834+226del