Canonical Allele Identifier: CA567296262

Gene: PKHD1

Linked Data

• dbSNP Id: rs1406739463
• gnomAD v2: 6-51934273-G-GTTAATATAT
• MyVariant Identifiers: chr6:g.51934273_51934274insTTAATATAT (hg19) ; chr6:g.52069475_52069476insTTAATATAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52069475_52069476insTTAATATAT , CM000668.2:g.52069475_52069476insTTAATATAT	GRCh38
NC_000006.11:g.51934273_51934274insTTAATATAT , CM000668.1:g.51934273_51934274insTTAATATAT	GRCh37
NC_000006.10:g.52042232_52042233insTTAATATAT	NCBI36
NG_008753.1:g.23150_23151insATATATTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.759_760insATATATTAA
ENST00000340994.4:c.759_760insATATATTAA
ENST00000371117.7:c.759_760insATATATTAA
NM_138694.3:c.759_760insATATATTAA
NM_170724.2:c.759_760insATATATTAA
XM_011514679.1:c.759_760insATATATTAA
XM_011514680.1:c.759_760insATATATTAA
XM_011514681.1:c.759_760insATATATTAA
XM_011514682.1:c.759_760insATATATTAA
XM_011514683.1:c.759_760insATATATTAA
XM_011514684.1:c.48_49insATATATTAA
XM_011514685.1:c.759_760insATATATTAA
XM_011514686.1:c.759_760insATATATTAA
XM_011514687.1:c.759_760insATATATTAA
XM_011514688.1:c.759_760insATATATTAA
XM_011514689.1:c.759_760insATATATTAA
XR_926869.1:n.389+279_389+280insTTAATATAT
XM_011514680.3:c.759_760insATATATTAA
XM_011514682.3:c.759_760insATATATTAA
XM_011514683.3:c.759_760insATATATTAA
XM_011514684.3:c.48_49insATATATTAA
XM_011514686.2:c.759_760insATATATTAA
XM_011514688.2:c.759_760insATATATTAA
XM_017010944.2:c.759_760insATATATTAA
XM_017010945.2:c.684_685insATATATTAA
XM_017010946.2:c.759_760insATATATTAA
XM_017010947.2:c.759_760insATATATTAA
XM_017010948.2:c.48_49insATATATTAA
XM_017010950.1:c.759_760insATATATTAA
XM_017010951.1:c.759_760insATATATTAA
XM_017010952.1:c.759_760insATATATTAA
XR_001743469.1:n.1035_1036insATATATTAA
NM_138694.4:c.759_760insATATATTAA
NM_170724.3:c.759_760insATATATTAA