Canonical Allele Identifier: CA891862705

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 591432
• ClinVar RCV Id: RCV000722611
• dbSNP Id: rs1562222437

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748056del , CM000668.2:g.51748056del	GRCh38
NC_000006.11:g.51612854del , CM000668.1:g.51612854del	GRCh37
NC_000006.10:g.51720813del	NCBI36
NG_008753.1:g.344570del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9560del MANE Select	ENSP00000360158.3:p.Ser3187LeufsTer?
ENST00000340994.4:c.9560del	ENSP00000341097.4:p.Ser3187LeufsTer?
ENST00000371117.7:c.9560del	ENSP00000360158.3:p.Ser3187LeufsTer?
NM_138694.3:c.9560del	NP_619639.3:p.Ser3187LeufsTer?
NM_170724.2:c.9560del	NP_733842.2:p.Ser3187LeufsTer?
XM_011514679.1:c.9560del	XP_011512981.1:p.Ser3187LeufsTer?
XM_011514680.1:c.9560del	XP_011512982.1:p.Ser3187LeufsTer?
XM_011514681.1:c.9431del	XP_011512983.1:p.Ser3144LeufsTer?
XM_011514682.1:c.9422del	XP_011512984.1:p.Ser3141LeufsTer?
XM_011514683.1:c.8918del	XP_011512985.1:p.Ser2973LeufsTer?
XM_011514684.1:c.8849del	XP_011512986.1:p.Ser2950LeufsTer?
XM_011514685.1:c.9560del	XP_011512987.1:p.Ser3187LeufsTer?
XM_011514686.1:c.9560del	XP_011512988.1:p.Ser3187LeufsTer?
XM_011514687.1:c.9560del	XP_011512989.1:p.Ser3187LeufsTer?
XM_011514688.1:c.9560del	XP_011512990.1:p.Ser3187LeufsTer?
XM_011514690.1:c.3635del	XP_011512992.1:p.Ser1212LeufsTer?
XM_011514691.1:c.3635del	XP_011512993.1:p.Ser1212LeufsTer?
XM_011514680.3:c.9560del	XP_011512982.1:p.Ser3187LeufsTer?
XM_011514682.3:c.9422del	XP_011512984.1:p.Ser3141LeufsTer?
XM_011514683.3:c.8918del	XP_011512985.1:p.Ser2973LeufsTer?
XM_011514684.3:c.8849del	XP_011512986.1:p.Ser2950LeufsTer?
XM_011514686.2:c.9560del	XP_011512988.1:p.Ser3187LeufsTer?
XM_011514688.2:c.9560del	XP_011512990.1:p.Ser3187LeufsTer?
XM_011514690.3:c.3635del	XP_011512992.1:p.Ser1212LeufsTer?
XM_011514691.3:c.3635del	XP_011512993.1:p.Ser1212LeufsTer?
XM_017010944.2:c.9560del	XP_016866433.1:p.Ser3187LeufsTer?
XM_017010945.2:c.9485del	XP_016866434.1:p.Ser3162LeufsTer?
XM_017010946.2:c.9365del	XP_016866435.1:p.Ser3122LeufsTer?
XM_017010947.2:c.9296del	XP_016866436.1:p.Ser3099LeufsTer?
XM_017010948.2:c.8849del	XP_016866437.1:p.Ser2950LeufsTer?
XM_017010949.2:c.7700del	XP_016866438.1:p.Ser2567LeufsTer?
XM_017010950.1:c.9560del	XP_016866439.1:p.Ser3187LeufsTer?
XR_001743469.1:n.9836del
NM_138694.4:c.9560del MANE Select	NP_619639.3:p.Ser3187LeufsTer?
NM_170724.3:c.9560del	NP_733842.2:p.Ser3187LeufsTer?