Canonical Allele Identifier: CA1628502430

Gene: PKHD1

Linked Data

• dbSNP Id: rs1785465022

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748065_51748067dup , CM000668.2:g.51748065_51748067dup	GRCh38
NC_000006.11:g.51612863_51612865dup , CM000668.1:g.51612863_51612865dup	GRCh37
NC_000006.10:g.51720822_51720824dup	NCBI36
NG_008753.1:g.344559_344561dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9549_9551dup MANE Select	ENSP00000360158.3:p.Tyr3184Ter
ENST00000340994.4:c.9549_9551dup	ENSP00000341097.4:p.Tyr3184Ter
ENST00000371117.7:c.9549_9551dup	ENSP00000360158.3:p.Tyr3184Ter
NM_138694.3:c.9549_9551dup	NP_619639.3:p.Tyr3184Ter
NM_170724.2:c.9549_9551dup	NP_733842.2:p.Tyr3184Ter
XM_011514679.1:c.9549_9551dup	XP_011512981.1:p.Tyr3184Ter
XM_011514680.1:c.9549_9551dup	XP_011512982.1:p.Tyr3184Ter
XM_011514681.1:c.9420_9422dup	XP_011512983.1:p.Tyr3141Ter
XM_011514682.1:c.9411_9413dup	XP_011512984.1:p.Tyr3138Ter
XM_011514683.1:c.8907_8909dup	XP_011512985.1:p.Tyr2970Ter
XM_011514684.1:c.8838_8840dup	XP_011512986.1:p.Tyr2947Ter
XM_011514685.1:c.9549_9551dup	XP_011512987.1:p.Tyr3184Ter
XM_011514686.1:c.9549_9551dup	XP_011512988.1:p.Tyr3184Ter
XM_011514687.1:c.9549_9551dup	XP_011512989.1:p.Tyr3184Ter
XM_011514688.1:c.9549_9551dup	XP_011512990.1:p.Tyr3184Ter
XM_011514690.1:c.3624_3626dup	XP_011512992.1:p.Tyr1209Ter
XM_011514691.1:c.3624_3626dup	XP_011512993.1:p.Tyr1209Ter
XM_011514680.3:c.9549_9551dup	XP_011512982.1:p.Tyr3184Ter
XM_011514682.3:c.9411_9413dup	XP_011512984.1:p.Tyr3138Ter
XM_011514683.3:c.8907_8909dup	XP_011512985.1:p.Tyr2970Ter
XM_011514684.3:c.8838_8840dup	XP_011512986.1:p.Tyr2947Ter
XM_011514686.2:c.9549_9551dup	XP_011512988.1:p.Tyr3184Ter
XM_011514688.2:c.9549_9551dup	XP_011512990.1:p.Tyr3184Ter
XM_011514690.3:c.3624_3626dup	XP_011512992.1:p.Tyr1209Ter
XM_011514691.3:c.3624_3626dup	XP_011512993.1:p.Tyr1209Ter
XM_017010944.2:c.9549_9551dup	XP_016866433.1:p.Tyr3184Ter
XM_017010945.2:c.9474_9476dup	XP_016866434.1:p.Tyr3159Ter
XM_017010946.2:c.9354_9356dup	XP_016866435.1:p.Tyr3119Ter
XM_017010947.2:c.9285_9287dup	XP_016866436.1:p.Tyr3096Ter
XM_017010948.2:c.8838_8840dup	XP_016866437.1:p.Tyr2947Ter
XM_017010949.2:c.7689_7691dup	XP_016866438.1:p.Tyr2564Ter
XM_017010950.1:c.9549_9551dup	XP_016866439.1:p.Tyr3184Ter
XR_001743469.1:n.9825_9827dup
NM_138694.4:c.9549_9551dup MANE Select	NP_619639.3:p.Tyr3184Ter
NM_170724.3:c.9549_9551dup	NP_733842.2:p.Tyr3184Ter