Canonical Allele Identifier: CA5446979

Gene: PDSS1

Linked Data

• dbSNP Id: rs756431088
• ExAC: 10:27012708 TTC / T
• gnomAD v2: 10-27012708-TTC-T
• gnomAD v3: 10-26723779-TTC-T
• gnomAD v4: 10-26723779-TTC-T
• MyVariant Identifiers: chr10:g.27012709_27012710del (hg19) ; chr10:g.26723780_26723781del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.26723781_26723782del , CM000672.2:g.26723781_26723782del	GRCh38
NC_000010.10:g.27012710_27012711del , CM000672.1:g.27012710_27012711del	GRCh37
NC_000010.9:g.27052716_27052717del	NCBI36
NG_008972.1:g.31116_31117del
NG_008972.2:g.31116_31117del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376215.10:c.610-25_610-24del MANE Select	ENSP00000365388.5:n.610-25_610-24del
ENST00000376215.9:c.610-25_610-24del	ENSP00000365388.5:n.610-25_610-24del
ENST00000473224.1:n.444-25_444-24del
ENST00000491711.5:c.18-25_18-24del
NM_014317.3:c.610-25_610-24del	NP_055132.2:n.610-25_610-24del
XM_005252439.2:c.100-25_100-24del	XP_005252496.1:n.100-25_100-24del
XM_011519437.1:c.241-25_241-24del	XP_011517739.1:n.241-25_241-24del
XR_428636.2:n.898-25_898-24del
XR_930486.1:n.898-25_898-24del
NM_001321978.1:c.610-25_610-24del	NP_001308907.1:n.610-25_610-24del
NM_001321979.1:c.100-25_100-24del	NP_001308908.1:n.100-25_100-24del
NM_014317.4:c.610-25_610-24del	NP_055132.2:n.610-25_610-24del
XM_011519437.3:c.241-25_241-24del	XP_011517739.1:n.241-25_241-24del
XM_017016011.2:c.289-25_289-24del	XP_016871500.1:n.289-25_289-24del
XM_024447922.1:c.610-25_610-24del	XP_024303690.1:n.610-25_610-24del
XM_024447923.1:c.100-25_100-24del	XP_024303691.1:n.100-25_100-24del
XR_428636.4:n.898-25_898-24del
NM_014317.5:c.610-25_610-24del MANE Select	NP_055132.2:n.610-25_610-24del
NM_001321978.2:c.610-25_610-24del	NP_001308907.1:n.610-25_610-24del
NM_001321979.2:c.100-25_100-24del	NP_001308908.1:n.100-25_100-24del