Canonical Allele Identifier: CA16041030
Gene: PKHD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 371547
ClinVar RCV Id: RCV000410690
dbSNP Id: rs1057517357
MyVariant Identifiers: chr6:g.51611658_51611661dupAACT (hg19) chr6:g.51611657_51611658insAACT (hg19) chr6:g.51746860_51746863dupAACT (hg38) chr6:g.51746859_51746860insAACT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.51746860_51746863dup , CM000668.2:g.51746860_51746863dup GRCh38
NC_000006.11:g.51611658_51611661dup , CM000668.1:g.51611658_51611661dup GRCh37
NC_000006.10:g.51719617_51719620dup NCBI36
NG_008753.1:g.345763_345766dup

Transcript Alleles

HGVS Amino-acid change
ENST00000371117.8:c.9856_9859dup MANE Select ENSP00000360158.3:p.Cys3287Ter
ENST00000340994.4:c.9856_9859dup ENSP00000341097.4:p.Cys3287Ter
ENST00000371117.7:c.9856_9859dup ENSP00000360158.3:p.Cys3287Ter
NM_138694.3:c.9856_9859dup NP_619639.3:p.Cys3287Ter
NM_170724.2:c.9856_9859dup NP_733842.2:p.Cys3287Ter
XM_011514679.1:c.9856_9859dup XP_011512981.1:p.Cys3287Ter
XM_011514680.1:c.9856_9859dup XP_011512982.1:p.Cys3287Ter
XM_011514681.1:c.9727_9730dup XP_011512983.1:p.Cys3244Ter
XM_011514682.1:c.9718_9721dup XP_011512984.1:p.Cys3241Ter
XM_011514683.1:c.9214_9217dup XP_011512985.1:p.Cys3073Ter
XM_011514684.1:c.9145_9148dup XP_011512986.1:p.Cys3050Ter
XM_011514685.1:c.9856_9859dup XP_011512987.1:p.Cys3287Ter
XM_011514686.1:c.9856_9859dup XP_011512988.1:p.Cys3287Ter
XM_011514687.1:c.9856_9859dup XP_011512989.1:p.Cys3287Ter
XM_011514688.1:c.*3_*6dup XP_011512990.1:n.*3_*6dup
XM_011514690.1:c.3931_3934dup XP_011512992.1:p.Cys1312Ter
XM_011514691.1:c.3931_3934dup XP_011512993.1:p.Cys1312Ter
XM_011514680.3:c.9856_9859dup XP_011512982.1:p.Cys3287Ter
XM_011514682.3:c.9718_9721dup XP_011512984.1:p.Cys3241Ter
XM_011514683.3:c.9214_9217dup XP_011512985.1:p.Cys3073Ter
XM_011514684.3:c.9145_9148dup XP_011512986.1:p.Cys3050Ter
XM_011514686.2:c.9856_9859dup XP_011512988.1:p.Cys3287Ter
XM_011514688.2:c.*3_*6dup XP_011512990.1:n.*3_*6dup
XM_011514690.3:c.3931_3934dup XP_011512992.1:p.Cys1312Ter
XM_011514691.3:c.3931_3934dup XP_011512993.1:p.Cys1312Ter
XM_017010944.2:c.9856_9859dup XP_016866433.1:p.Cys3287Ter
XM_017010945.2:c.9781_9784dup XP_016866434.1:p.Cys3262Ter
XM_017010946.2:c.9661_9664dup XP_016866435.1:p.Cys3222Ter
XM_017010947.2:c.9592_9595dup XP_016866436.1:p.Cys3199Ter
XM_017010948.2:c.9145_9148dup XP_016866437.1:p.Cys3050Ter
XM_017010949.2:c.7996_7999dup XP_016866438.1:p.Cys2667Ter
XM_017010950.1:c.9856_9859dup XP_016866439.1:p.Cys3287Ter
XR_001743469.1:n.10132_10135dup
NM_138694.4:c.9856_9859dup MANE Select NP_619639.3:p.Cys3287Ter
NM_170724.3:c.9856_9859dup NP_733842.2:p.Cys3287Ter
Search 100 bp 5'
Search 100 bp 3'