Canonical Allele Identifier: CA1918891289

Gene: PSAP

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.71834604_71834605delinsGA , CM000672.2:g.71834604_71834605delinsGA	GRCh38
NC_000010.10:g.73594361_73594362delinsGA , CM000672.1:g.73594361_73594362delinsGA	GRCh37
NC_000010.9:g.73264367_73264368delinsGA	NCBI36
NG_009301.1:g.21721_21722delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394936.8:c.41-100_41-99delinsTC MANE Select	ENSP00000378394.3:n.41-100_41-99delinsTC
ENST00000394934.4:c.41-100_41-99delinsTC	ENSP00000378392.2:n.41-100_41-99delinsTC
ENST00000394936.7:c.41-100_41-99delinsTC	ENSP00000378394.3:n.41-100_41-99delinsTC
ENST00000610929.3:c.41-100_41-99delinsTC	ENSP00000480857.1:n.41-100_41-99delinsTC
NM_001042465.1:c.41-100_41-99delinsTC	NP_001035930.1:n.41-100_41-99delinsTC
NM_001042466.1:c.41-100_41-99delinsTC	NP_001035931.1:n.41-100_41-99delinsTC
NM_002778.2:c.41-100_41-99delinsTC	NP_002769.1:n.41-100_41-99delinsTC
NM_001042465.2:c.41-100_41-99delinsTC	NP_001035930.1:n.41-100_41-99delinsTC
NM_001042466.2:c.41-100_41-99delinsTC	NP_001035931.1:n.41-100_41-99delinsTC
NM_002778.3:c.41-100_41-99delinsTC	NP_002769.1:n.41-100_41-99delinsTC
NM_002778.4:c.41-100_41-99delinsTC MANE Select	NP_002769.1:n.41-100_41-99delinsTC
NM_001042465.3:c.41-100_41-99delinsTC	NP_001035930.1:n.41-100_41-99delinsTC
NM_001042466.3:c.41-100_41-99delinsTC	NP_001035931.1:n.41-100_41-99delinsTC