Canonical Allele Identifier: CA1898170333

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697814_26697823delinsAGCGCCGCTG , CM000672.2:g.26697814_26697823delinsAGCGCCGCTG	GRCh38
NC_000010.10:g.26986743_26986752delinsAGCGCCGCTG , CM000672.1:g.26986743_26986752delinsAGCGCCGCTG	GRCh37
NC_000010.9:g.27026749_27026758delinsAGCGCCGCTG	NCBI36
NG_008972.1:g.5149_5158delinsAGCGCCGCTG
NG_008972.2:g.5149_5158delinsAGCGCCGCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.103_112delinsAGCGCCGCTG MANE Select	ENSP00000365388.5:p.Ser35=
ENST00000376215.9:c.103_112delinsAGCGCCGCTG	ENSP00000365388.5:p.Ser35=
NM_014317.3:c.103_112delinsAGCGCCGCTG	NP_055132.2:p.Ser35=
XR_428636.2:n.391_400delinsAGCGCCGCTG
XR_930486.1:n.391_400delinsAGCGCCGCTG
NM_001321978.1:c.103_112delinsAGCGCCGCTG	NP_001308907.1:p.Ser35=
NM_001321979.1:c.-491_-482delinsAGCGCCGCTG	NP_001308908.1:n.-491_-482delinsAGCGCCGCTG
NM_014317.4:c.103_112delinsAGCGCCGCTG	NP_055132.2:p.Ser35=
XM_024447922.1:c.103_112delinsAGCGCCGCTG	XP_024303690.1:p.Ser35=
XR_428636.4:n.391_400delinsAGCGCCGCTG
NM_014317.5:c.103_112delinsAGCGCCGCTG MANE Select	NP_055132.2:p.Ser35=
NM_001321978.2:c.103_112delinsAGCGCCGCTG	NP_001308907.1:p.Ser35=
NM_001321979.2:c.-491_-482delinsAGCGCCGCTG	NP_001308908.1:n.-491_-482delinsAGCGCCGCTG