Canonical Allele Identifier: CA138895840

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51612642_51612643insT (hg19) ; chr6:g.51747844_51747845insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51747844_51747845insT , CM000668.2:g.51747844_51747845insT	GRCh38
NC_000006.11:g.51612642_51612643insT , CM000668.1:g.51612642_51612643insT	GRCh37
NC_000006.10:g.51720601_51720602insT	NCBI36
NG_008753.1:g.344781_344782insA

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.9771_9772insA MANE Select	ENSP00000360158.3:p.Glu3258ArgfsTer9
ENST00000340994.4:c.9771_9772insA	ENSP00000341097.4:p.Glu3258ArgfsTer9
ENST00000371117.7:c.9771_9772insA	ENSP00000360158.3:p.Glu3258ArgfsTer9
NM_138694.3:c.9771_9772insA	NP_619639.3:p.Glu3258ArgfsTer9
NM_170724.2:c.9771_9772insA	NP_733842.2:p.Glu3258ArgfsTer9
XM_011514679.1:c.9771_9772insA	XP_011512981.1:p.Glu3258ArgfsTer9
XM_011514680.1:c.9771_9772insA	XP_011512982.1:p.Glu3258ArgfsTer9
XM_011514681.1:c.9642_9643insA	XP_011512983.1:p.Glu3215ArgfsTer9
XM_011514682.1:c.9633_9634insA	XP_011512984.1:p.Glu3212ArgfsTer9
XM_011514683.1:c.9129_9130insA	XP_011512985.1:p.Glu3044ArgfsTer9
XM_011514684.1:c.9060_9061insA	XP_011512986.1:p.Glu3021ArgfsTer9
XM_011514685.1:c.9771_9772insA	XP_011512987.1:p.Glu3258ArgfsTer9
XM_011514686.1:c.9771_9772insA	XP_011512988.1:p.Glu3258ArgfsTer9
XM_011514687.1:c.9771_9772insA	XP_011512989.1:p.Glu3258ArgfsTer9
XM_011514688.1:c.9771_9772insA	XP_011512990.1:p.Glu3258ArgfsTer9
XM_011514690.1:c.3846_3847insA	XP_011512992.1:p.Glu1283ArgfsTer9
XM_011514691.1:c.3846_3847insA	XP_011512993.1:p.Glu1283ArgfsTer9
XM_011514680.3:c.9771_9772insA	XP_011512982.1:p.Glu3258ArgfsTer9
XM_011514682.3:c.9633_9634insA	XP_011512984.1:p.Glu3212ArgfsTer9
XM_011514683.3:c.9129_9130insA	XP_011512985.1:p.Glu3044ArgfsTer9
XM_011514684.3:c.9060_9061insA	XP_011512986.1:p.Glu3021ArgfsTer9
XM_011514686.2:c.9771_9772insA	XP_011512988.1:p.Glu3258ArgfsTer9
XM_011514688.2:c.9771_9772insA	XP_011512990.1:p.Glu3258ArgfsTer9
XM_011514690.3:c.3846_3847insA	XP_011512992.1:p.Glu1283ArgfsTer9
XM_011514691.3:c.3846_3847insA	XP_011512993.1:p.Glu1283ArgfsTer9
XM_017010944.2:c.9771_9772insA	XP_016866433.1:p.Glu3258ArgfsTer9
XM_017010945.2:c.9696_9697insA	XP_016866434.1:p.Glu3233ArgfsTer9
XM_017010946.2:c.9576_9577insA	XP_016866435.1:p.Glu3193ArgfsTer9
XM_017010947.2:c.9507_9508insA	XP_016866436.1:p.Glu3170ArgfsTer9
XM_017010948.2:c.9060_9061insA	XP_016866437.1:p.Glu3021ArgfsTer9
XM_017010949.2:c.7911_7912insA	XP_016866438.1:p.Glu2638ArgfsTer9
XM_017010950.1:c.9771_9772insA	XP_016866439.1:p.Glu3258ArgfsTer9
XR_001743469.1:n.10047_10048insA
NM_138694.4:c.9771_9772insA MANE Select	NP_619639.3:p.Glu3258ArgfsTer9
NM_170724.3:c.9771_9772insA	NP_733842.2:p.Glu3258ArgfsTer9