Canonical Allele Identifier: CA2740093026

Gene: PSAP

Linked Data

• ClinVar Variation Id: 3007980
• ClinVar RCV Id: RCV003864579

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834524dup , CM000672.2:g.71834524dup	GRCh38
NC_000010.10:g.73594281dup , CM000672.1:g.73594281dup	GRCh37
NC_000010.9:g.73264287dup	NCBI36
NG_009301.1:g.21802dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.41-19dup MANE Select	ENSP00000378394.3:n.41-19dup
ENST00000394934.4:c.41-19dup	ENSP00000378392.2:n.41-19dup
ENST00000394936.7:c.41-19dup	ENSP00000378394.3:n.41-19dup
ENST00000610929.3:c.41-19dup	ENSP00000480857.1:n.41-19dup
NM_001042465.1:c.41-19dup	NP_001035930.1:n.41-19dup
NM_001042466.1:c.41-19dup	NP_001035931.1:n.41-19dup
NM_002778.2:c.41-19dup	NP_002769.1:n.41-19dup
NM_001042465.2:c.41-19dup	NP_001035930.1:n.41-19dup
NM_001042466.2:c.41-19dup	NP_001035931.1:n.41-19dup
NM_002778.3:c.41-19dup	NP_002769.1:n.41-19dup
NM_002778.4:c.41-19dup MANE Select	NP_002769.1:n.41-19dup
NM_001042465.3:c.41-19dup	NP_001035930.1:n.41-19dup
NM_001042466.3:c.41-19dup	NP_001035931.1:n.41-19dup