Canonical Allele Identifier: CA1092899773

Gene: PDSS2

Linked Data

• dbSNP Id: rs35614951
• gnomAD v3: 6-107245418-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAA
• gnomAD v4: 6-107245418-C-CAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107245445_107245446insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000668.2:g.107245445_107245446insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh38
NC_000006.11:g.107566649_107566650insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000668.1:g.107566649_107566650insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	GRCh37
NC_000006.10:g.107673342_107673343insACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NCBI36
NG_013033.1:g.219157_219158insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369037.9:c.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000358033.4:n.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTT...
ENST00000369037.8:c.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000358033.4:n.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTT...
NM_020381.3:c.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NP_065114.3:n.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTT...
XM_011535956.1:c.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011534258.1:n.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTT...
XM_011535957.1:c.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011534259.1:n.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTT...
XM_011535958.1:c.567+129_567+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011534260.1:n.567+129_567+130insTTTTTTGTTTTTTTTTTTTTTTTTTT...
XM_011535959.1:c.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011534261.1:n.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTT...
XM_011535960.1:c.294+129_294+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011534262.1:n.294+129_294+130insTTTTTTGTTTTTTTTTTTTTTTTTTT...
XM_011535961.1:c.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011534263.1:n.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTT...
XM_011535962.1:c.294+129_294+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011534264.1:n.294+129_294+130insTTTTTTGTTTTTTTTTTTTTTTTTTT...
XM_011535956.3:c.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011534258.1:n.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTT...
XM_011535957.3:c.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011534259.1:n.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTT...
XM_011535958.3:c.567+129_567+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011534260.1:n.567+129_567+130insTTTTTTGTTTTTTTTTTTTTTTTTTT...
XM_011535959.3:c.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011534261.1:n.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTT...
XM_011535960.3:c.294+129_294+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011534262.1:n.294+129_294+130insTTTTTTGTTTTTTTTTTTTTTTTTTT...
XM_011535961.3:c.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011534263.1:n.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTT...
XM_011535962.2:c.294+129_294+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011534264.1:n.294+129_294+130insTTTTTTGTTTTTTTTTTTTTTTTTTT...
XM_017011082.2:c.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016866571.1:n.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTT...
NM_020381.4:c.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_065114.3:n.702+129_702+130insTTTTTTGTTTTTTTTTTTTTTTTTTTTTT...