Canonical Allele Identifier: CA2579731924

Gene: SSR4

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.153798105del , CM000685.2:g.153798105del	GRCh38
NC_000023.10:g.153063560del , CM000685.1:g.153063560del	GRCh37
NC_000023.9:g.152716754del	NCBI36
NG_041795.1:g.8931del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370086.8:c.386del MANE Select	ENSP00000359103.3:p.Pro129ArgfsTer?
ENST00000320857.7:c.386del	ENSP00000317331.3:p.Pro129ArgfsTer?
ENST00000370085.3:c.311del	ENSP00000359102.3:p.Pro104ArgfsTer?
ENST00000370086.7:c.386del	ENSP00000359103.3:p.Pro129ArgfsTer?
ENST00000370087.5:c.386del	ENSP00000359104.1:p.Pro129ArgfsTer?
ENST00000447375.1:n.226del
ENST00000460616.5:n.2094del
ENST00000471880.5:n.589del
ENST00000482902.5:n.2213del
ENST00000485612.5:n.501del
ENST00000486204.5:n.458del
NM_001204526.1:c.419del	NP_001191455.1:p.Pro140ArgfsTer?
NM_001204527.1:c.410del	NP_001191456.1:p.Pro137ArgfsTer?
NM_006280.2:c.386del	NP_006271.1:p.Pro129ArgfsTer?
NR_037927.1:n.731del
XM_011531186.1:c.386del	XP_011529488.1:p.Pro129ArgfsTer?
XM_011531187.1:c.386del	XP_011529489.1:p.Pro129ArgfsTer?
XM_017029756.1:c.197del	XP_016885245.1:p.Pro66ArgfsTer?
XM_017029757.1:c.197del	XP_016885246.1:p.Pro66ArgfsTer?
XM_024452428.1:c.197del	XP_024308196.1:p.Pro66ArgfsTer?
NM_001204527.2:c.410del	NP_001191456.1:p.Pro137ArgfsTer?
NM_006280.3:c.386del MANE Select	NP_006271.1:p.Pro129ArgfsTer?