Canonical Allele Identifier: CA567635984

Gene: PKHD1

Linked Data

• dbSNP Id: rs771623148
• gnomAD v2: 6-51524471-GA-G
• gnomAD v4: 6-51659673-GA-G
• MyVariant Identifiers: chr6:g.51524472del (hg19) ; chr6:g.51659674del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659679del , CM000668.2:g.51659679del	GRCh38
NC_000006.11:g.51524477del , CM000668.1:g.51524477del	GRCh37
NC_000006.10:g.51632436del	NCBI36
NG_008753.1:g.432952del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.10452del MANE Select	ENSP00000360158.3:p.Leu3485TyrfsTer26
ENST00000371117.7:c.10452del	ENSP00000360158.3:p.Leu3485TyrfsTer26
NM_138694.3:c.10452del	NP_619639.3:p.Leu3485TyrfsTer26
XM_011514679.1:c.10452del	XP_011512981.1:p.Leu3485TyrfsTer26
XM_011514680.1:c.10452del	XP_011512982.1:p.Leu3485TyrfsTer26
XM_011514681.1:c.10323del	XP_011512983.1:p.Leu3442TyrfsTer26
XM_011514682.1:c.10314del	XP_011512984.1:p.Leu3439TyrfsTer26
XM_011514683.1:c.9810del	XP_011512985.1:p.Leu3271TyrfsTer26
XM_011514684.1:c.9741del	XP_011512986.1:p.Leu3248TyrfsTer26
XM_011514687.1:c.10157-10454del	XP_011512989.1:n.10157-10454del
XM_011514690.1:c.4527del	XP_011512992.1:p.Leu1510TyrfsTer26
XM_011514691.1:c.4527del	XP_011512993.1:p.Leu1510TyrfsTer26
XR_926870.1:n.535+7306del
XR_926871.1:n.403+7306del
XR_926872.1:n.535+7306del
XM_011514680.3:c.10452del	XP_011512982.1:p.Leu3485TyrfsTer26
XM_011514682.3:c.10314del	XP_011512984.1:p.Leu3439TyrfsTer26
XM_011514683.3:c.9810del	XP_011512985.1:p.Leu3271TyrfsTer26
XM_011514684.3:c.9741del	XP_011512986.1:p.Leu3248TyrfsTer26
XM_011514690.3:c.4527del	XP_011512992.1:p.Leu1510TyrfsTer26
XM_011514691.3:c.4527del	XP_011512993.1:p.Leu1510TyrfsTer26
XM_017010944.2:c.10452del	XP_016866433.1:p.Leu3485TyrfsTer26
XM_017010945.2:c.10377del	XP_016866434.1:p.Leu3460TyrfsTer26
XM_017010946.2:c.10257del	XP_016866435.1:p.Leu3420TyrfsTer26
XM_017010947.2:c.10188del	XP_016866436.1:p.Leu3397TyrfsTer26
XM_017010948.2:c.9741del	XP_016866437.1:p.Leu3248TyrfsTer26
XM_017010949.2:c.8592del	XP_016866438.1:p.Leu2865TyrfsTer26
XR_001743469.1:n.10728del
XR_001744157.1:n.3145+7306del
XR_926870.2:n.3145+7306del
XR_926871.2:n.3013+7306del
XR_926872.2:n.3145+7306del
NM_138694.4:c.10452del MANE Select	NP_619639.3:p.Leu3485TyrfsTer26