Canonical Allele Identifier: CA913110698

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51777179_51777196del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51912381_51912398del , CM000668.2:g.51912381_51912398del	GRCh38
NC_000006.11:g.51777179_51777196del , CM000668.1:g.51777179_51777196del	GRCh37
NC_000006.10:g.51885138_51885155del	NCBI36
NG_008753.1:g.180228_180245del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.6300_6317del MANE Select	ENSP00000360158.3:p.Gln2100_Leu2106delinsHis
ENST00000340994.4:c.6300_6317del	ENSP00000341097.4:p.Gln2100_Leu2106delinsHis
ENST00000371117.7:c.6300_6317del	ENSP00000360158.3:p.Gln2100_Leu2106delinsHis
NM_138694.3:c.6300_6317del	NP_619639.3:p.Gln2100_Leu2106delinsHis
NM_170724.2:c.6300_6317del	NP_733842.2:p.Gln2100_Leu2106delinsHis
XM_011514679.1:c.6300_6317del	XP_011512981.1:p.Gln2100_Leu2106delinsHis
XM_011514680.1:c.6300_6317del	XP_011512982.1:p.Gln2100_Leu2106delinsHis
XM_011514681.1:c.6300_6317del	XP_011512983.1:p.Gln2100_Leu2106delinsHis
XM_011514682.1:c.6300_6317del	XP_011512984.1:p.Gln2100_Leu2106delinsHis
XM_011514683.1:c.5658_5675del	XP_011512985.1:p.Gln1886_Leu1892delinsHis
XM_011514684.1:c.5589_5606del	XP_011512986.1:p.Gln1863_Leu1869delinsHis
XM_011514685.1:c.6300_6317del	XP_011512987.1:p.Gln2100_Leu2106delinsHis
XM_011514686.1:c.6300_6317del	XP_011512988.1:p.Gln2100_Leu2106delinsHis
XM_011514687.1:c.6300_6317del	XP_011512989.1:p.Gln2100_Leu2106delinsHis
XM_011514688.1:c.6300_6317del	XP_011512990.1:p.Gln2100_Leu2106delinsHis
XM_011514689.1:c.6300_6317del	XP_011512991.1:p.Gln2100_Leu2106delinsHis
XM_011514690.1:c.375_392del	XP_011512992.1:p.Gln125_Leu131delinsHis
XM_011514691.1:c.375_392del	XP_011512993.1:p.Gln125_Leu131delinsHis
XM_011514680.3:c.6300_6317del	XP_011512982.1:p.Gln2100_Leu2106delinsHis
XM_011514682.3:c.6300_6317del	XP_011512984.1:p.Gln2100_Leu2106delinsHis
XM_011514683.3:c.5658_5675del	XP_011512985.1:p.Gln1886_Leu1892delinsHis
XM_011514684.3:c.5589_5606del	XP_011512986.1:p.Gln1863_Leu1869delinsHis
XM_011514686.2:c.6300_6317del	XP_011512988.1:p.Gln2100_Leu2106delinsHis
XM_011514688.2:c.6300_6317del	XP_011512990.1:p.Gln2100_Leu2106delinsHis
XM_011514690.3:c.375_392del	XP_011512992.1:p.Gln125_Leu131delinsHis
XM_011514691.3:c.375_392del	XP_011512993.1:p.Gln125_Leu131delinsHis
XM_017010944.2:c.6300_6317del	XP_016866433.1:p.Gln2100_Leu2106delinsHis
XM_017010945.2:c.6225_6242del	XP_016866434.1:p.Gln2075_Leu2081delinsHis
XM_017010946.2:c.6300_6317del	XP_016866435.1:p.Gln2100_Leu2106delinsHis
XM_017010947.2:c.6036_6053del	XP_016866436.1:p.Gln2012_Leu2018delinsHis
XM_017010948.2:c.5589_5606del	XP_016866437.1:p.Gln1863_Leu1869delinsHis
XM_017010949.2:c.4440_4457del	XP_016866438.1:p.Gln1480_Leu1486delinsHis
XM_017010950.1:c.6300_6317del	XP_016866439.1:p.Gln2100_Leu2106delinsHis
XM_017010951.1:c.6300_6317del	XP_016866440.1:p.Gln2100_Leu2106delinsHis
XM_017010952.1:c.6300_6317del	XP_016866441.1:p.Gln2100_Leu2106delinsHis
XR_001743469.1:n.6576_6593del
NM_138694.4:c.6300_6317del MANE Select	NP_619639.3:p.Gln2100_Leu2106delinsHis
NM_170724.3:c.6300_6317del	NP_733842.2:p.Gln2100_Leu2106delinsHis