Canonical Allele Identifier: CA1628502406

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748056_51748057delinsGA , CM000668.2:g.51748056_51748057delinsGA	GRCh38
NC_000006.11:g.51612854_51612855delinsGA , CM000668.1:g.51612854_51612855delinsGA	GRCh37
NC_000006.10:g.51720813_51720814delinsGA	NCBI36
NG_008753.1:g.344569_344570delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9559_9560delinsTC MANE Select	ENSP00000360158.3:p.Ser3187=
ENST00000340994.4:c.9559_9560delinsTC	ENSP00000341097.4:p.Ser3187=
ENST00000371117.7:c.9559_9560delinsTC	ENSP00000360158.3:p.Ser3187=
NM_138694.3:c.9559_9560delinsTC	NP_619639.3:p.Ser3187=
NM_170724.2:c.9559_9560delinsTC	NP_733842.2:p.Ser3187=
XM_011514679.1:c.9559_9560delinsTC	XP_011512981.1:p.Ser3187=
XM_011514680.1:c.9559_9560delinsTC	XP_011512982.1:p.Ser3187=
XM_011514681.1:c.9430_9431delinsTC	XP_011512983.1:p.Ser3144=
XM_011514682.1:c.9421_9422delinsTC	XP_011512984.1:p.Ser3141=
XM_011514683.1:c.8917_8918delinsTC	XP_011512985.1:p.Ser2973=
XM_011514684.1:c.8848_8849delinsTC	XP_011512986.1:p.Ser2950=
XM_011514685.1:c.9559_9560delinsTC	XP_011512987.1:p.Ser3187=
XM_011514686.1:c.9559_9560delinsTC	XP_011512988.1:p.Ser3187=
XM_011514687.1:c.9559_9560delinsTC	XP_011512989.1:p.Ser3187=
XM_011514688.1:c.9559_9560delinsTC	XP_011512990.1:p.Ser3187=
XM_011514690.1:c.3634_3635delinsTC	XP_011512992.1:p.Ser1212=
XM_011514691.1:c.3634_3635delinsTC	XP_011512993.1:p.Ser1212=
XM_011514680.3:c.9559_9560delinsTC	XP_011512982.1:p.Ser3187=
XM_011514682.3:c.9421_9422delinsTC	XP_011512984.1:p.Ser3141=
XM_011514683.3:c.8917_8918delinsTC	XP_011512985.1:p.Ser2973=
XM_011514684.3:c.8848_8849delinsTC	XP_011512986.1:p.Ser2950=
XM_011514686.2:c.9559_9560delinsTC	XP_011512988.1:p.Ser3187=
XM_011514688.2:c.9559_9560delinsTC	XP_011512990.1:p.Ser3187=
XM_011514690.3:c.3634_3635delinsTC	XP_011512992.1:p.Ser1212=
XM_011514691.3:c.3634_3635delinsTC	XP_011512993.1:p.Ser1212=
XM_017010944.2:c.9559_9560delinsTC	XP_016866433.1:p.Ser3187=
XM_017010945.2:c.9484_9485delinsTC	XP_016866434.1:p.Ser3162=
XM_017010946.2:c.9364_9365delinsTC	XP_016866435.1:p.Ser3122=
XM_017010947.2:c.9295_9296delinsTC	XP_016866436.1:p.Ser3099=
XM_017010948.2:c.8848_8849delinsTC	XP_016866437.1:p.Ser2950=
XM_017010949.2:c.7699_7700delinsTC	XP_016866438.1:p.Ser2567=
XM_017010950.1:c.9559_9560delinsTC	XP_016866439.1:p.Ser3187=
XR_001743469.1:n.9835_9836delinsTC
NM_138694.4:c.9559_9560delinsTC MANE Select	NP_619639.3:p.Ser3187=
NM_170724.3:c.9559_9560delinsTC	NP_733842.2:p.Ser3187=