Canonical Allele Identifier: CA1898185430

Gene: PDSS1

Linked Data

• dbSNP Id: rs1835369488

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26709935_26709946del , CM000672.2:g.26709935_26709946del	GRCh38
NC_000010.10:g.26998864_26998875del , CM000672.1:g.26998864_26998875del	GRCh37
NC_000010.9:g.27038870_27038881del	NCBI36
NG_008972.1:g.17270_17281del
NG_008972.2:g.17270_17281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376215.10:c.467+167_467+178del MANE Select	ENSP00000365388.5:n.467+167_467+178del
ENST00000376215.9:c.467+167_467+178del	ENSP00000365388.5:n.467+167_467+178del
ENST00000473224.1:n.218+167_218+178del
NM_014317.3:c.467+167_467+178del	NP_055132.2:n.467+167_467+178del
XM_005252439.2:c.-127+167_-127+178del	XP_005252496.1:n.-127+167_-127+178del
XM_011519437.1:c.98+167_98+178del	XP_011517739.1:n.98+167_98+178del
XR_428636.2:n.755+167_755+178del
XR_930486.1:n.755+167_755+178del
NM_001321978.1:c.467+167_467+178del	NP_001308907.1:n.467+167_467+178del
NM_001321979.1:c.-127+167_-127+178del	NP_001308908.1:n.-127+167_-127+178del
NM_014317.4:c.467+167_467+178del	NP_055132.2:n.467+167_467+178del
XM_011519437.3:c.98+167_98+178del	XP_011517739.1:n.98+167_98+178del
XM_017016011.2:c.146+167_146+178del	XP_016871500.1:n.146+167_146+178del
XM_024447922.1:c.467+167_467+178del	XP_024303690.1:n.467+167_467+178del
XM_024447923.1:c.-127+167_-127+178del	XP_024303691.1:n.-127+167_-127+178del
XR_428636.4:n.755+167_755+178del
NM_014317.5:c.467+167_467+178del MANE Select	NP_055132.2:n.467+167_467+178del
NM_001321978.2:c.467+167_467+178del	NP_001308907.1:n.467+167_467+178del
NM_001321979.2:c.-127+167_-127+178del	NP_001308908.1:n.-127+167_-127+178del