Canonical Allele Identifier: CA816881411

Gene: PDSS2

Linked Data

• dbSNP Id: rs35614951
• gnomAD v3: 6-107245418-CAAA-C
• gnomAD v4: 6-107245418-CAAA-C
• MyVariant Identifiers: chr6:g.107566623_107566625del (hg19) ; chr6:g.107245419_107245421del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.107245443_107245445del , CM000668.2:g.107245443_107245445del	GRCh38
NC_000006.11:g.107566647_107566649del , CM000668.1:g.107566647_107566649del	GRCh37
NC_000006.10:g.107673340_107673342del	NCBI36
NG_013033.1:g.219155_219157del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369037.9:c.702+127_702+129del MANE Select	ENSP00000358033.4:n.702+127_702+129del
ENST00000369037.8:c.702+127_702+129del	ENSP00000358033.4:n.702+127_702+129del
NM_020381.3:c.702+127_702+129del	NP_065114.3:n.702+127_702+129del
XM_011535956.1:c.702+127_702+129del	XP_011534258.1:n.702+127_702+129del
XM_011535957.1:c.702+127_702+129del	XP_011534259.1:n.702+127_702+129del
XM_011535958.1:c.567+127_567+129del	XP_011534260.1:n.567+127_567+129del
XM_011535959.1:c.702+127_702+129del	XP_011534261.1:n.702+127_702+129del
XM_011535960.1:c.294+127_294+129del	XP_011534262.1:n.294+127_294+129del
XM_011535961.1:c.702+127_702+129del	XP_011534263.1:n.702+127_702+129del
XM_011535962.1:c.294+127_294+129del	XP_011534264.1:n.294+127_294+129del
XM_011535956.3:c.702+127_702+129del	XP_011534258.1:n.702+127_702+129del
XM_011535957.3:c.702+127_702+129del	XP_011534259.1:n.702+127_702+129del
XM_011535958.3:c.567+127_567+129del	XP_011534260.1:n.567+127_567+129del
XM_011535959.3:c.702+127_702+129del	XP_011534261.1:n.702+127_702+129del
XM_011535960.3:c.294+127_294+129del	XP_011534262.1:n.294+127_294+129del
XM_011535961.3:c.702+127_702+129del	XP_011534263.1:n.702+127_702+129del
XM_011535962.2:c.294+127_294+129del	XP_011534264.1:n.294+127_294+129del
XM_017011082.2:c.702+127_702+129del	XP_016866571.1:n.702+127_702+129del
NM_020381.4:c.702+127_702+129del MANE Select	NP_065114.3:n.702+127_702+129del