Canonical Allele Identifier: CA913110676

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51612828_51612831del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748030_51748033del , CM000668.2:g.51748030_51748033del	GRCh38
NC_000006.11:g.51612828_51612831del , CM000668.1:g.51612828_51612831del	GRCh37
NC_000006.10:g.51720787_51720790del	NCBI36
NG_008753.1:g.344593_344596del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9583_9586del MANE Select	ENSP00000360158.3:p.Lys3195CysfsTer24
ENST00000340994.4:c.9583_9586del	ENSP00000341097.4:p.Lys3195CysfsTer24
ENST00000371117.7:c.9583_9586del	ENSP00000360158.3:p.Lys3195CysfsTer24
NM_138694.3:c.9583_9586del	NP_619639.3:p.Lys3195CysfsTer24
NM_170724.2:c.9583_9586del	NP_733842.2:p.Lys3195CysfsTer24
XM_011514679.1:c.9583_9586del	XP_011512981.1:p.Lys3195CysfsTer24
XM_011514680.1:c.9583_9586del	XP_011512982.1:p.Lys3195CysfsTer24
XM_011514681.1:c.9454_9457del	XP_011512983.1:p.Lys3152CysfsTer24
XM_011514682.1:c.9445_9448del	XP_011512984.1:p.Lys3149CysfsTer24
XM_011514683.1:c.8941_8944del	XP_011512985.1:p.Lys2981CysfsTer24
XM_011514684.1:c.8872_8875del	XP_011512986.1:p.Lys2958CysfsTer24
XM_011514685.1:c.9583_9586del	XP_011512987.1:p.Lys3195CysfsTer24
XM_011514686.1:c.9583_9586del	XP_011512988.1:p.Lys3195CysfsTer24
XM_011514687.1:c.9583_9586del	XP_011512989.1:p.Lys3195CysfsTer24
XM_011514688.1:c.9583_9586del	XP_011512990.1:p.Lys3195CysfsTer24
XM_011514690.1:c.3658_3661del	XP_011512992.1:p.Lys1220CysfsTer24
XM_011514691.1:c.3658_3661del	XP_011512993.1:p.Lys1220CysfsTer24
XM_011514680.3:c.9583_9586del	XP_011512982.1:p.Lys3195CysfsTer24
XM_011514682.3:c.9445_9448del	XP_011512984.1:p.Lys3149CysfsTer24
XM_011514683.3:c.8941_8944del	XP_011512985.1:p.Lys2981CysfsTer24
XM_011514684.3:c.8872_8875del	XP_011512986.1:p.Lys2958CysfsTer24
XM_011514686.2:c.9583_9586del	XP_011512988.1:p.Lys3195CysfsTer24
XM_011514688.2:c.9583_9586del	XP_011512990.1:p.Lys3195CysfsTer24
XM_011514690.3:c.3658_3661del	XP_011512992.1:p.Lys1220CysfsTer24
XM_011514691.3:c.3658_3661del	XP_011512993.1:p.Lys1220CysfsTer24
XM_017010944.2:c.9583_9586del	XP_016866433.1:p.Lys3195CysfsTer24
XM_017010945.2:c.9508_9511del	XP_016866434.1:p.Lys3170CysfsTer24
XM_017010946.2:c.9388_9391del	XP_016866435.1:p.Lys3130CysfsTer24
XM_017010947.2:c.9319_9322del	XP_016866436.1:p.Lys3107CysfsTer24
XM_017010948.2:c.8872_8875del	XP_016866437.1:p.Lys2958CysfsTer24
XM_017010949.2:c.7723_7726del	XP_016866438.1:p.Lys2575CysfsTer24
XM_017010950.1:c.9583_9586del	XP_016866439.1:p.Lys3195CysfsTer24
XR_001743469.1:n.9859_9862del
NM_138694.4:c.9583_9586del MANE Select	NP_619639.3:p.Lys3195CysfsTer24
NM_170724.3:c.9583_9586del	NP_733842.2:p.Lys3195CysfsTer24