Canonical Allele Identifier: CA1898170643

Gene: PDSS1

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26697951_26697962delinsGCGGGGTAGCTC , CM000672.2:g.26697951_26697962delinsGCGGGGTAGCTC	GRCh38
NC_000010.10:g.26986880_26986891delinsGCGGGGTAGCTC , CM000672.1:g.26986880_26986891delinsGCGGGGTAGCTC	GRCh37
NC_000010.9:g.27026886_27026897delinsGCGGGGTAGCTC	NCBI36
NG_008972.1:g.5286_5297delinsGCGGGGTAGCTC
NG_008972.2:g.5286_5297delinsGCGGGGTAGCTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.129+111_129+122delinsGCGGGGTAGCTC MANE Select	ENSP00000365388.5:n.129+111_129+122delinsGCGGGGTAGCTC
ENST00000376215.9:c.129+111_129+122delinsGCGGGGTAGCTC	ENSP00000365388.5:n.129+111_129+122delinsGCGGGGTAGCTC
NM_014317.3:c.129+111_129+122delinsGCGGGGTAGCTC	NP_055132.2:n.129+111_129+122delinsGCGGGGTAGCTC
XR_428636.2:n.417+111_417+122delinsGCGGGGTAGCTC
XR_930486.1:n.417+111_417+122delinsGCGGGGTAGCTC
NM_001321978.1:c.129+111_129+122delinsGCGGGGTAGCTC	NP_001308907.1:n.129+111_129+122delinsGCGGGGTAGCTC
NM_001321979.1:c.-465+111_-465+122delinsGCGGGGTAGCTC	NP_001308908.1:n.-465+111_-465+122delinsGCGGGGTAGCTC
NM_014317.4:c.129+111_129+122delinsGCGGGGTAGCTC	NP_055132.2:n.129+111_129+122delinsGCGGGGTAGCTC
XM_024447922.1:c.129+111_129+122delinsGCGGGGTAGCTC	XP_024303690.1:n.129+111_129+122delinsGCGGGGTAGCTC
XR_428636.4:n.417+111_417+122delinsGCGGGGTAGCTC
NM_014317.5:c.129+111_129+122delinsGCGGGGTAGCTC MANE Select	NP_055132.2:n.129+111_129+122delinsGCGGGGTAGCTC
NM_001321978.2:c.129+111_129+122delinsGCGGGGTAGCTC	NP_001308907.1:n.129+111_129+122delinsGCGGGGTAGCTC
NM_001321979.2:c.-465+111_-465+122delinsGCGGGGTAGCTC	NP_001308908.1:n.-465+111_-465+122delinsGCGGGGTAGCTC