Canonical Allele Identifier: CA10582453

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 241848
• ClinVar RCV Id: RCV000228094
• dbSNP Id: rs878855204
• MyVariant Identifiers: chr6:g.51612944_51612945delinsTT (hg19) ; chr6:g.51748146_51748147delinsTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748146_51748147delinsTT , CM000668.2:g.51748146_51748147delinsTT	GRCh38
NC_000006.11:g.51612944_51612945delinsTT , CM000668.1:g.51612944_51612945delinsTT	GRCh37
NC_000006.10:g.51720903_51720904delinsTT	NCBI36
NG_008753.1:g.344479_344480delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9469_9470delinsAA MANE Select	ENSP00000360158.3:p.Ala3157Asn
ENST00000340994.4:c.9469_9470delinsAA	ENSP00000341097.4:p.Ala3157Asn
ENST00000371117.7:c.9469_9470delinsAA	ENSP00000360158.3:p.Ala3157Asn
NM_138694.3:c.9469_9470delinsAA	NP_619639.3:p.Ala3157Asn
NM_170724.2:c.9469_9470delinsAA	NP_733842.2:p.Ala3157Asn
XM_011514679.1:c.9469_9470delinsAA	XP_011512981.1:p.Ala3157Asn
XM_011514680.1:c.9469_9470delinsAA	XP_011512982.1:p.Ala3157Asn
XM_011514681.1:c.9340_9341delinsAA	XP_011512983.1:p.Ala3114Asn
XM_011514682.1:c.9331_9332delinsAA	XP_011512984.1:p.Ala3111Asn
XM_011514683.1:c.8827_8828delinsAA	XP_011512985.1:p.Ala2943Asn
XM_011514684.1:c.8758_8759delinsAA	XP_011512986.1:p.Ala2920Asn
XM_011514685.1:c.9469_9470delinsAA	XP_011512987.1:p.Ala3157Asn
XM_011514686.1:c.9469_9470delinsAA	XP_011512988.1:p.Ala3157Asn
XM_011514687.1:c.9469_9470delinsAA	XP_011512989.1:p.Ala3157Asn
XM_011514688.1:c.9469_9470delinsAA	XP_011512990.1:p.Ala3157Asn
XM_011514690.1:c.3544_3545delinsAA	XP_011512992.1:p.Ala1182Asn
XM_011514691.1:c.3544_3545delinsAA	XP_011512993.1:p.Ala1182Asn
XM_011514680.3:c.9469_9470delinsAA	XP_011512982.1:p.Ala3157Asn
XM_011514682.3:c.9331_9332delinsAA	XP_011512984.1:p.Ala3111Asn
XM_011514683.3:c.8827_8828delinsAA	XP_011512985.1:p.Ala2943Asn
XM_011514684.3:c.8758_8759delinsAA	XP_011512986.1:p.Ala2920Asn
XM_011514686.2:c.9469_9470delinsAA	XP_011512988.1:p.Ala3157Asn
XM_011514688.2:c.9469_9470delinsAA	XP_011512990.1:p.Ala3157Asn
XM_011514690.3:c.3544_3545delinsAA	XP_011512992.1:p.Ala1182Asn
XM_011514691.3:c.3544_3545delinsAA	XP_011512993.1:p.Ala1182Asn
XM_017010944.2:c.9469_9470delinsAA	XP_016866433.1:p.Ala3157Asn
XM_017010945.2:c.9394_9395delinsAA	XP_016866434.1:p.Ala3132Asn
XM_017010946.2:c.9274_9275delinsAA	XP_016866435.1:p.Ala3092Asn
XM_017010947.2:c.9205_9206delinsAA	XP_016866436.1:p.Ala3069Asn
XM_017010948.2:c.8758_8759delinsAA	XP_016866437.1:p.Ala2920Asn
XM_017010949.2:c.7609_7610delinsAA	XP_016866438.1:p.Ala2537Asn
XM_017010950.1:c.9469_9470delinsAA	XP_016866439.1:p.Ala3157Asn
XR_001743469.1:n.9745_9746delinsAA
NM_138694.4:c.9469_9470delinsAA MANE Select	NP_619639.3:p.Ala3157Asn
NM_170724.3:c.9469_9470delinsAA	NP_733842.2:p.Ala3157Asn