Canonical Allele Identifier: CA209472377

Gene: PSAP

Linked Data

• dbSNP Id: rs755656237
• gnomAD v4: 10-71834639-GAC-G
• MyVariant Identifiers: chr10:g.73594397_73594398del (hg19) ; chr10:g.71834640_71834641del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834642_71834643del , CM000672.2:g.71834642_71834643del	GRCh38
NC_000010.10:g.73594399_73594400del , CM000672.1:g.73594399_73594400del	GRCh37
NC_000010.9:g.73264405_73264406del	NCBI36
NG_009301.1:g.21685_21686del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.41-136_41-135del MANE Select	ENSP00000378394.3:n.41-136_41-135del
ENST00000394934.4:c.41-136_41-135del	ENSP00000378392.2:n.41-136_41-135del
ENST00000394936.7:c.41-136_41-135del	ENSP00000378394.3:n.41-136_41-135del
ENST00000610929.3:c.41-136_41-135del	ENSP00000480857.1:n.41-136_41-135del
NM_001042465.1:c.41-136_41-135del	NP_001035930.1:n.41-136_41-135del
NM_001042466.1:c.41-136_41-135del	NP_001035931.1:n.41-136_41-135del
NM_002778.2:c.41-136_41-135del	NP_002769.1:n.41-136_41-135del
NM_001042465.2:c.41-136_41-135del	NP_001035930.1:n.41-136_41-135del
NM_001042466.2:c.41-136_41-135del	NP_001035931.1:n.41-136_41-135del
NM_002778.3:c.41-136_41-135del	NP_002769.1:n.41-136_41-135del
NM_002778.4:c.41-136_41-135del MANE Select	NP_002769.1:n.41-136_41-135del
NM_001042465.3:c.41-136_41-135del	NP_001035930.1:n.41-136_41-135del
NM_001042466.3:c.41-136_41-135del	NP_001035931.1:n.41-136_41-135del