Canonical Allele Identifier: CA2695206421

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51746869del , CM000668.2:g.51746869del	GRCh38
NC_000006.11:g.51611667del , CM000668.1:g.51611667del	GRCh37
NC_000006.10:g.51719626del	NCBI36
NG_008753.1:g.345757del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.9850del MANE Select	ENSP00000360158.3:p.Val3284Ter
ENST00000340994.4:c.9850del	ENSP00000341097.4:p.Val3284Ter
ENST00000371117.7:c.9850del	ENSP00000360158.3:p.Val3284Ter
NM_138694.3:c.9850del	NP_619639.3:p.Val3284Ter
NM_170724.2:c.9850del	NP_733842.2:p.Val3284Ter
XM_011514679.1:c.9850del	XP_011512981.1:p.Val3284Ter
XM_011514680.1:c.9850del	XP_011512982.1:p.Val3284Ter
XM_011514681.1:c.9721del	XP_011512983.1:p.Val3241Ter
XM_011514682.1:c.9712del	XP_011512984.1:p.Val3238Ter
XM_011514683.1:c.9208del	XP_011512985.1:p.Val3070Ter
XM_011514684.1:c.9139del	XP_011512986.1:p.Val3047Ter
XM_011514685.1:c.9850del	XP_011512987.1:p.Val3284Ter
XM_011514686.1:c.9850del	XP_011512988.1:p.Val3284Ter
XM_011514687.1:c.9850del	XP_011512989.1:p.Val3284Ter
XM_011514688.1:c.9834del	XP_011512990.1:p.Leu3278PhefsTer6
XM_011514690.1:c.3925del	XP_011512992.1:p.Val1309Ter
XM_011514691.1:c.3925del	XP_011512993.1:p.Val1309Ter
XM_011514680.3:c.9850del	XP_011512982.1:p.Val3284Ter
XM_011514682.3:c.9712del	XP_011512984.1:p.Val3238Ter
XM_011514683.3:c.9208del	XP_011512985.1:p.Val3070Ter
XM_011514684.3:c.9139del	XP_011512986.1:p.Val3047Ter
XM_011514686.2:c.9850del	XP_011512988.1:p.Val3284Ter
XM_011514688.2:c.9834del	XP_011512990.1:p.Leu3278PhefsTer6
XM_011514690.3:c.3925del	XP_011512992.1:p.Val1309Ter
XM_011514691.3:c.3925del	XP_011512993.1:p.Val1309Ter
XM_017010944.2:c.9850del	XP_016866433.1:p.Val3284Ter
XM_017010945.2:c.9775del	XP_016866434.1:p.Val3259Ter
XM_017010946.2:c.9655del	XP_016866435.1:p.Val3219Ter
XM_017010947.2:c.9586del	XP_016866436.1:p.Val3196Ter
XM_017010948.2:c.9139del	XP_016866437.1:p.Val3047Ter
XM_017010949.2:c.7990del	XP_016866438.1:p.Val2664Ter
XM_017010950.1:c.9850del	XP_016866439.1:p.Val3284Ter
XR_001743469.1:n.10126del
NM_138694.4:c.9850del MANE Select	NP_619639.3:p.Val3284Ter
NM_170724.3:c.9850del	NP_733842.2:p.Val3284Ter