Canonical Allele Identifier: CA1898170686

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697969_26697980delinsAGCTCCGGGGTG , CM000672.2:g.26697969_26697980delinsAGCTCCGGGGTG	GRCh38
NC_000010.10:g.26986898_26986909delinsAGCTCCGGGGTG , CM000672.1:g.26986898_26986909delinsAGCTCCGGGGTG	GRCh37
NC_000010.9:g.27026904_27026915delinsAGCTCCGGGGTG	NCBI36
NG_008972.1:g.5304_5315delinsAGCTCCGGGGTG
NG_008972.2:g.5304_5315delinsAGCTCCGGGGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.129+129_129+140delinsAGCTCCGGGGTG MANE Select	ENSP00000365388.5:n.129+129_129+140delinsAGCTCCGGGGTG
ENST00000376215.9:c.129+129_129+140delinsAGCTCCGGGGTG	ENSP00000365388.5:n.129+129_129+140delinsAGCTCCGGGGTG
NM_014317.3:c.129+129_129+140delinsAGCTCCGGGGTG	NP_055132.2:n.129+129_129+140delinsAGCTCCGGGGTG
XR_428636.2:n.417+129_417+140delinsAGCTCCGGGGTG
XR_930486.1:n.417+129_417+140delinsAGCTCCGGGGTG
NM_001321978.1:c.129+129_129+140delinsAGCTCCGGGGTG	NP_001308907.1:n.129+129_129+140delinsAGCTCCGGGGTG
NM_001321979.1:c.-465+129_-465+140delinsAGCTCCGGGGTG	NP_001308908.1:n.-465+129_-465+140delinsAGCTCCGGGGTG
NM_014317.4:c.129+129_129+140delinsAGCTCCGGGGTG	NP_055132.2:n.129+129_129+140delinsAGCTCCGGGGTG
XM_024447922.1:c.129+129_129+140delinsAGCTCCGGGGTG	XP_024303690.1:n.129+129_129+140delinsAGCTCCGGGGTG
XR_428636.4:n.417+129_417+140delinsAGCTCCGGGGTG
NM_014317.5:c.129+129_129+140delinsAGCTCCGGGGTG MANE Select	NP_055132.2:n.129+129_129+140delinsAGCTCCGGGGTG
NM_001321978.2:c.129+129_129+140delinsAGCTCCGGGGTG	NP_001308907.1:n.129+129_129+140delinsAGCTCCGGGGTG
NM_001321979.2:c.-465+129_-465+140delinsAGCTCCGGGGTG	NP_001308908.1:n.-465+129_-465+140delinsAGCTCCGGGGTG