Canonical Allele Identifier: CA2608594919

Gene: PDSS1

Linked Data

• gnomAD v4: 10-26697852-AGGCGCGCGCCCGGCGGGGCTCAGAGGTCACGGCTCCAATGACAGCAGTGGGCGGAATGAATGGGAGCGGGGAGCACGTGCGTCGCGACGCGGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697861_26697953del , CM000672.2:g.26697861_26697953del	GRCh38
NC_000010.10:g.26986790_26986882del , CM000672.1:g.26986790_26986882del	GRCh37
NC_000010.9:g.27026796_27026888del	NCBI36
NG_008972.1:g.5196_5288del
NG_008972.2:g.5196_5288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.129+21_129+113del MANE Select	ENSP00000365388.5:n.129+21_129+113del
ENST00000376215.9:c.129+21_129+113del	ENSP00000365388.5:n.129+21_129+113del
NM_014317.3:c.129+21_129+113del	NP_055132.2:n.129+21_129+113del
XR_428636.2:n.417+21_417+113del
XR_930486.1:n.417+21_417+113del
NM_001321978.1:c.129+21_129+113del	NP_001308907.1:n.129+21_129+113del
NM_001321979.1:c.-465+21_-465+113del	NP_001308908.1:n.-465+21_-465+113del
NM_014317.4:c.129+21_129+113del	NP_055132.2:n.129+21_129+113del
XM_024447922.1:c.129+21_129+113del	XP_024303690.1:n.129+21_129+113del
XR_428636.4:n.417+21_417+113del
NM_014317.5:c.129+21_129+113del MANE Select	NP_055132.2:n.129+21_129+113del
NM_001321978.2:c.129+21_129+113del	NP_001308907.1:n.129+21_129+113del
NM_001321979.2:c.-465+21_-465+113del	NP_001308908.1:n.-465+21_-465+113del