Canonical Allele Identifier: CA2574576277
Gene: PSAP HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.71834317_71834318del , CM000672.2:g.71834317_71834318del GRCh38
NC_000010.10:g.73594074_73594075del , CM000672.1:g.73594074_73594075del GRCh37
NC_000010.9:g.73264080_73264081del NCBI36
NG_009301.1:g.22009_22010del

Transcript Alleles

HGVS Amino-acid Change
ENST00000394936.8:c.174+55_174+56del MANE Select ENSP00000378394.3:n.174+55_174+56del
ENST00000394934.4:c.174+55_174+56del ENSP00000378392.2:n.174+55_174+56del
ENST00000394936.7:c.174+55_174+56del ENSP00000378394.3:n.174+55_174+56del
ENST00000610929.3:c.174+55_174+56del ENSP00000480857.1:n.174+55_174+56del
NM_001042465.1:c.174+55_174+56del NP_001035930.1:n.174+55_174+56del
NM_001042466.1:c.174+55_174+56del NP_001035931.1:n.174+55_174+56del
NM_002778.2:c.174+55_174+56del NP_002769.1:n.174+55_174+56del
NM_001042465.2:c.174+55_174+56del NP_001035930.1:n.174+55_174+56del
NM_001042466.2:c.174+55_174+56del NP_001035931.1:n.174+55_174+56del
NM_002778.3:c.174+55_174+56del NP_002769.1:n.174+55_174+56del
NM_002778.4:c.174+55_174+56del MANE Select NP_002769.1:n.174+55_174+56del
NM_001042465.3:c.174+55_174+56del NP_001035930.1:n.174+55_174+56del
NM_001042466.3:c.174+55_174+56del NP_001035931.1:n.174+55_174+56del
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