Canonical Allele Identifier: CA567287226

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 949045
• ClinVar RCV Id: RCV001220424 ; RCV002272417 ; RCV003462749
• dbSNP Id: rs1473686155
• gnomAD v2: 6-51618036-CACAA-C
• gnomAD v3: 6-51753238-CACAA-C
• gnomAD v4: 6-51753238-CACAA-C
• MyVariant Identifiers: chr6:g.51618037_51618040del (hg19) ; chr6:g.51753239_51753242del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51753242_51753245del , CM000668.2:g.51753242_51753245del	GRCh38
NC_000006.11:g.51618040_51618043del , CM000668.1:g.51618040_51618043del	GRCh37
NC_000006.10:g.51725999_51726002del	NCBI36
NG_008753.1:g.339384_339387del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.8909_8912del MANE Select	ENSP00000360158.3:p.Phe2970TrpfsTer?
ENST00000340994.4:c.8909_8912del	ENSP00000341097.4:p.Phe2970TrpfsTer?
ENST00000371117.7:c.8909_8912del	ENSP00000360158.3:p.Phe2970TrpfsTer?
NM_138694.3:c.8909_8912del	NP_619639.3:p.Phe2970TrpfsTer?
NM_170724.2:c.8909_8912del	NP_733842.2:p.Phe2970TrpfsTer?
XM_011514679.1:c.8909_8912del	XP_011512981.1:p.Phe2970TrpfsTer?
XM_011514680.1:c.8909_8912del	XP_011512982.1:p.Phe2970TrpfsTer?
XM_011514681.1:c.8780_8783del	XP_011512983.1:p.Phe2927TrpfsTer?
XM_011514682.1:c.8771_8774del	XP_011512984.1:p.Phe2924TrpfsTer?
XM_011514683.1:c.8267_8270del	XP_011512985.1:p.Phe2756TrpfsTer?
XM_011514684.1:c.8198_8201del	XP_011512986.1:p.Phe2733TrpfsTer?
XM_011514685.1:c.8909_8912del	XP_011512987.1:p.Phe2970TrpfsTer?
XM_011514686.1:c.8909_8912del	XP_011512988.1:p.Phe2970TrpfsTer?
XM_011514687.1:c.8909_8912del	XP_011512989.1:p.Phe2970TrpfsTer?
XM_011514688.1:c.8909_8912del	XP_011512990.1:p.Phe2970TrpfsTer?
XM_011514690.1:c.2984_2987del	XP_011512992.1:p.Phe995TrpfsTer?
XM_011514691.1:c.2984_2987del	XP_011512993.1:p.Phe995TrpfsTer?
XM_011514680.3:c.8909_8912del	XP_011512982.1:p.Phe2970TrpfsTer?
XM_011514682.3:c.8771_8774del	XP_011512984.1:p.Phe2924TrpfsTer?
XM_011514683.3:c.8267_8270del	XP_011512985.1:p.Phe2756TrpfsTer?
XM_011514684.3:c.8198_8201del	XP_011512986.1:p.Phe2733TrpfsTer?
XM_011514686.2:c.8909_8912del	XP_011512988.1:p.Phe2970TrpfsTer?
XM_011514688.2:c.8909_8912del	XP_011512990.1:p.Phe2970TrpfsTer?
XM_011514690.3:c.2984_2987del	XP_011512992.1:p.Phe995TrpfsTer?
XM_011514691.3:c.2984_2987del	XP_011512993.1:p.Phe995TrpfsTer?
XM_017010944.2:c.8909_8912del	XP_016866433.1:p.Phe2970TrpfsTer?
XM_017010945.2:c.8834_8837del	XP_016866434.1:p.Phe2945TrpfsTer?
XM_017010946.2:c.8714_8717del	XP_016866435.1:p.Phe2905TrpfsTer?
XM_017010947.2:c.8645_8648del	XP_016866436.1:p.Phe2882TrpfsTer?
XM_017010948.2:c.8198_8201del	XP_016866437.1:p.Phe2733TrpfsTer?
XM_017010949.2:c.7049_7052del	XP_016866438.1:p.Phe2350TrpfsTer?
XM_017010950.1:c.8909_8912del	XP_016866439.1:p.Phe2970TrpfsTer?
XR_001743469.1:n.9185_9188del
NM_138694.4:c.8909_8912del MANE Select	NP_619639.3:p.Phe2970TrpfsTer?
NM_170724.3:c.8909_8912del	NP_733842.2:p.Phe2970TrpfsTer?