Canonical Allele Identifier: CA913110668

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491804_51491806del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627007_51627009del , CM000668.2:g.51627007_51627009del	GRCh38
NC_000006.11:g.51491805_51491807del , CM000668.1:g.51491805_51491807del	GRCh37
NC_000006.10:g.51599764_51599766del	NCBI36
NG_008753.1:g.465621_465623del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11777_11779del MANE Select	ENSP00000360158.3:p.Val3926del
ENST00000371117.7:c.11777_11779del	ENSP00000360158.3:p.Val3926del
NM_138694.3:c.11777_11779del	NP_619639.3:p.Val3926del
XM_011514679.1:c.11777_11779del	XP_011512981.1:p.Val3926del
XM_011514680.1:c.11777_11779del	XP_011512982.1:p.Val3926del
XM_011514681.1:c.11648_11650del	XP_011512983.1:p.Val3883del
XM_011514682.1:c.11639_11641del	XP_011512984.1:p.Val3880del
XM_011514683.1:c.11135_11137del	XP_011512985.1:p.Val3712del
XM_011514684.1:c.11066_11068del	XP_011512986.1:p.Val3689del
XM_011514690.1:c.5852_5854del	XP_011512992.1:p.Val1951del
XM_011514691.1:c.5852_5854del	XP_011512993.1:p.Val1951del
XM_011514680.3:c.11777_11779del	XP_011512982.1:p.Val3926del
XM_011514682.3:c.11639_11641del	XP_011512984.1:p.Val3880del
XM_011514683.3:c.11135_11137del	XP_011512985.1:p.Val3712del
XM_011514684.3:c.11066_11068del	XP_011512986.1:p.Val3689del
XM_011514690.3:c.5852_5854del	XP_011512992.1:p.Val1951del
XM_011514691.3:c.5852_5854del	XP_011512993.1:p.Val1951del
XM_017010944.2:c.11777_11779del	XP_016866433.1:p.Val3926del
XM_017010945.2:c.11702_11704del	XP_016866434.1:p.Val3901del
XM_017010946.2:c.11582_11584del	XP_016866435.1:p.Val3861del
XM_017010947.2:c.11513_11515del	XP_016866436.1:p.Val3838del
XM_017010948.2:c.11066_11068del	XP_016866437.1:p.Val3689del
XM_017010949.2:c.9917_9919del	XP_016866438.1:p.Val3306del
NM_138694.4:c.11777_11779del MANE Select	NP_619639.3:p.Val3926del