Canonical Allele Identifier: CA567635985

Gene: PKHD1

Linked Data

• dbSNP Id: rs1562044579
• gnomAD v2: 6-51524762-ATGTACC-A
• gnomAD v4: 6-51659964-ATGTACC-A
• MyVariant Identifiers: chr6:g.51524763_51524768del (hg19) ; chr6:g.51659965_51659970del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659966_51659971del , CM000668.2:g.51659966_51659971del	GRCh38
NC_000006.11:g.51524764_51524769del , CM000668.1:g.51524764_51524769del	GRCh37
NC_000006.10:g.51632723_51632728del	NCBI36
NG_008753.1:g.432656_432661del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10157-1_10161del
ENST00000371117.7:c.10157-1_10161del
NM_138694.3:c.10157-1_10161del
XM_011514679.1:c.10157-1_10161del
XM_011514680.1:c.10157-1_10161del
XM_011514681.1:c.10028-1_10032del
XM_011514682.1:c.10019-1_10023del
XM_011514683.1:c.9515-1_9519del
XM_011514684.1:c.9446-1_9450del
XM_011514687.1:c.10157-10750_10157-10745del	XP_011512989.1:n.10157-10750_10157-10745del
XM_011514690.1:c.4232-1_4236del
XM_011514691.1:c.4232-1_4236del
XR_926870.1:n.535+7593_535+7598del
XR_926871.1:n.403+7593_403+7598del
XR_926872.1:n.535+7593_535+7598del
XM_011514680.3:c.10157-1_10161del
XM_011514682.3:c.10019-1_10023del
XM_011514683.3:c.9515-1_9519del
XM_011514684.3:c.9446-1_9450del
XM_011514690.3:c.4232-1_4236del
XM_011514691.3:c.4232-1_4236del
XM_017010944.2:c.10157-1_10161del
XM_017010945.2:c.10082-1_10086del
XM_017010946.2:c.9962-1_9966del
XM_017010947.2:c.9893-1_9897del
XM_017010948.2:c.9446-1_9450del
XM_017010949.2:c.8297-1_8301del
XR_001743469.1:n.10433-1_10437del
XR_001744157.1:n.3145+7593_3145+7598del
XR_926870.2:n.3145+7593_3145+7598del
XR_926871.2:n.3013+7593_3013+7598del
XR_926872.2:n.3145+7593_3145+7598del
NM_138694.4:c.10157-1_10161del