Canonical Allele Identifier: CA2609589398

Gene: PSAP

Linked Data

• dbSNP Id: rs2133053164
• gnomAD v4: 10-71834529-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834531del , CM000672.2:g.71834531del	GRCh38
NC_000010.10:g.73594288del , CM000672.1:g.73594288del	GRCh37
NC_000010.9:g.73264294del	NCBI36
NG_009301.1:g.21796del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.41-25del MANE Select	ENSP00000378394.3:n.41-25del
ENST00000394934.4:c.41-25del	ENSP00000378392.2:n.41-25del
ENST00000394936.7:c.41-25del	ENSP00000378394.3:n.41-25del
ENST00000610929.3:c.41-25del	ENSP00000480857.1:n.41-25del
NM_001042465.1:c.41-25del	NP_001035930.1:n.41-25del
NM_001042466.1:c.41-25del	NP_001035931.1:n.41-25del
NM_002778.2:c.41-25del	NP_002769.1:n.41-25del
NM_001042465.2:c.41-25del	NP_001035930.1:n.41-25del
NM_001042466.2:c.41-25del	NP_001035931.1:n.41-25del
NM_002778.3:c.41-25del	NP_002769.1:n.41-25del
NM_002778.4:c.41-25del MANE Select	NP_002769.1:n.41-25del
NM_001042465.3:c.41-25del	NP_001035930.1:n.41-25del
NM_001042466.3:c.41-25del	NP_001035931.1:n.41-25del