Canonical Allele Identifier: CA913189408

Gene: PSAP

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71819547del , CM000672.2:g.71819547del	GRCh38
NC_000010.10:g.73579304del , CM000672.1:g.73579304del	GRCh37
NC_000010.9:g.73249310del	NCBI36
NG_009301.1:g.36779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.1268del MANE Select	ENSP00000378394.3:p.Leu423ArgfsTer?
ENST00000394934.4:c.1277del	ENSP00000378392.2:p.Leu426ArgfsTer?
ENST00000394936.7:c.1268del	ENSP00000378394.3:p.Leu423ArgfsTer?
ENST00000610929.3:c.416del	ENSP00000480857.1:p.Leu139ArgfsTer?
NM_001042465.1:c.1277del	NP_001035930.1:p.Leu426ArgfsTer?
NM_001042466.1:c.1274del	NP_001035931.1:p.Leu425ArgfsTer?
NM_002778.2:c.1268del	NP_002769.1:p.Leu423ArgfsTer?
NM_001042465.2:c.1277del	NP_001035930.1:p.Leu426ArgfsTer?
NM_001042466.2:c.1274del	NP_001035931.1:p.Leu425ArgfsTer?
NM_002778.3:c.1268del	NP_002769.1:p.Leu423ArgfsTer?
NM_002778.4:c.1268del MANE Select	NP_002769.1:p.Leu423ArgfsTer?
NM_001042465.3:c.1277del	NP_001035930.1:p.Leu426ArgfsTer?
NM_001042466.3:c.1274del	NP_001035931.1:p.Leu425ArgfsTer?