Canonical Allele Identifier: CA3850699

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 598048
• ClinVar RCV Id: RCV000734343 ; RCV003465668
• dbSNP Id: rs761547193
• ExAC: 6:51491759 TCTCCTGTGGGGATCATCTCCACCCTCCAAGCTTAC / T
• gnomAD v2: 6-51491759-TCTCCTGTGGGGATCATCTCCACCCTCCAAGCTTAC-T
• gnomAD v3: 6-51626961-TCTCCTGTGGGGATCATCTCCACCCTCCAAGCTTAC-T
• gnomAD v4: 6-51626961-TCTCCTGTGGGGATCATCTCCACCCTCCAAGCTTAC-T
• MyVariant Identifiers: chr6:g.51491760_51491794del (hg19) ; chr6:g.51626962_51626996del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51626964_51626998del , CM000668.2:g.51626964_51626998del	GRCh38
NC_000006.11:g.51491762_51491796del , CM000668.1:g.51491762_51491796del	GRCh37
NC_000006.10:g.51599721_51599755del	NCBI36
NG_008753.1:g.465630_465664del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11785+1_11785+35del
ENST00000371117.7:c.11785+1_11785+35del
NM_138694.3:c.11785+1_11785+35del
XM_011514679.1:c.11785+1_11785+35del
XM_011514680.1:c.11785+1_11785+35del
XM_011514681.1:c.11656+1_11656+35del
XM_011514682.1:c.11647+1_11647+35del
XM_011514683.1:c.11143+1_11143+35del
XM_011514684.1:c.11074+1_11074+35del
XM_011514690.1:c.5860+1_5860+35del
XM_011514691.1:c.5860+1_5860+35del
XM_011514680.3:c.11785+1_11785+35del
XM_011514682.3:c.11647+1_11647+35del
XM_011514683.3:c.11143+1_11143+35del
XM_011514684.3:c.11074+1_11074+35del
XM_011514690.3:c.5860+1_5860+35del
XM_011514691.3:c.5860+1_5860+35del
XM_017010944.2:c.11785+1_11785+35del
XM_017010945.2:c.11710+1_11710+35del
XM_017010946.2:c.11590+1_11590+35del
XM_017010947.2:c.11521+1_11521+35del
XM_017010948.2:c.11074+1_11074+35del
XM_017010949.2:c.9925+1_9925+35del
NM_138694.4:c.11785+1_11785+35del