Canonical Allele Identifier: CA209452023

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71817750del , CM000672.2:g.71817750del	GRCh38
NC_000010.10:g.73577507del , CM000672.1:g.73577507del	GRCh37
NC_000010.9:g.73247513del	NCBI36
NG_008835.1:g.425804del
NG_009301.1:g.38578del

Transcript Alleles

HGVS	Amino-acid Change
NM_002778.4:c.1540-272del MANE Select	NP_002769.1:n.1540-272del
ENST00000394936.8:c.1540-272del MANE Select	ENSP00000378394.3:n.1540-272del
NM_001042465.1:c.1549-272del	NP_001035930.1:n.1549-272del
NM_001042465.2:c.1549-272del	NP_001035930.1:n.1549-272del
NM_001042465.3:c.1549-272del	NP_001035930.1:n.1549-272del
NM_001042466.1:c.1546-272del	NP_001035931.1:n.1546-272del
NM_001042466.2:c.1546-272del	NP_001035931.1:n.1546-272del
NM_001042466.3:c.1546-272del	NP_001035931.1:n.1546-272del
NM_002778.2:c.1540-272del	NP_002769.1:n.1540-272del
NM_002778.3:c.1540-272del	NP_002769.1:n.1540-272del
ENST00000394934.4:c.1549-272del	ENSP00000378392.2:n.1549-272del
ENST00000394936.7:c.1540-272del	ENSP00000378394.3:n.1540-272del
ENST00000610929.3:c.688-272del	ENSP00000480857.1:n.688-272del