Canonical Allele Identifier: CA2580081862

Gene: PSAP

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71828900_71828901dup , CM000672.2:g.71828900_71828901dup	GRCh38
NC_000010.10:g.73588657_73588658dup , CM000672.1:g.73588657_73588658dup	GRCh37
NC_000010.9:g.73258663_73258664dup	NCBI36
NG_009301.1:g.27428_27429dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.555_556dup MANE Select	ENSP00000378394.3:p.Arg186ProfsTer21
ENST00000394934.4:c.555_556dup	ENSP00000378392.2:p.Arg186ProfsTer21
ENST00000394936.7:c.555_556dup	ENSP00000378394.3:p.Arg186ProfsTer21
ENST00000610929.3:c.270+2333_270+2334dup	ENSP00000480857.1:n.270+2333_270+2334dup
NM_001042465.1:c.555_556dup	NP_001035930.1:p.Arg186ProfsTer21
NM_001042466.1:c.555_556dup	NP_001035931.1:p.Arg186ProfsTer21
NM_002778.2:c.555_556dup	NP_002769.1:p.Arg186ProfsTer21
NM_001042465.2:c.555_556dup	NP_001035930.1:p.Arg186ProfsTer21
NM_001042466.2:c.555_556dup	NP_001035931.1:p.Arg186ProfsTer21
NM_002778.3:c.555_556dup	NP_002769.1:p.Arg186ProfsTer21
NM_002778.4:c.555_556dup MANE Select	NP_002769.1:p.Arg186ProfsTer21
NM_001042465.3:c.555_556dup	NP_001035930.1:p.Arg186ProfsTer21
NM_001042466.3:c.555_556dup	NP_001035931.1:p.Arg186ProfsTer21