Canonical Allele Identifier: CA2580081931

Gene: PSAP

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71825891_71825892delinsTT , CM000672.2:g.71825891_71825892delinsTT	GRCh38
NC_000010.10:g.73585648_73585649delinsTT , CM000672.1:g.73585648_73585649delinsTT	GRCh37
NC_000010.9:g.73255654_73255655delinsTT	NCBI36
NG_009301.1:g.30434_30435delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.722_723delinsAA MANE Select	ENSP00000378394.3:p.Cys241Ter
ENST00000394934.4:c.722_723delinsAA	ENSP00000378392.2:p.Cys241Ter
ENST00000394936.7:c.722_723delinsAA	ENSP00000378394.3:p.Cys241Ter
ENST00000610929.3:c.270+5339_270+5340delinsAA	ENSP00000480857.1:n.270+5339_270+5340delinsAA
ENST00000633965.1:c.123_124delinsAA
NM_001042465.1:c.722_723delinsAA	NP_001035930.1:p.Cys241Ter
NM_001042466.1:c.722_723delinsAA	NP_001035931.1:p.Cys241Ter
NM_002778.2:c.722_723delinsAA	NP_002769.1:p.Cys241Ter
NM_001042465.2:c.722_723delinsAA	NP_001035930.1:p.Cys241Ter
NM_001042466.2:c.722_723delinsAA	NP_001035931.1:p.Cys241Ter
NM_002778.3:c.722_723delinsAA	NP_002769.1:p.Cys241Ter
NM_002778.4:c.722_723delinsAA MANE Select	NP_002769.1:p.Cys241Ter
NM_001042465.3:c.722_723delinsAA	NP_001035930.1:p.Cys241Ter
NM_001042466.3:c.722_723delinsAA	NP_001035931.1:p.Cys241Ter