Canonical Allele Identifier: CA1628469692

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627032_51627033delinsTG , CM000668.2:g.51627032_51627033delinsTG	GRCh38
NC_000006.11:g.51491830_51491831delinsTG , CM000668.1:g.51491830_51491831delinsTG	GRCh37
NC_000006.10:g.51599789_51599790delinsTG	NCBI36
NG_008753.1:g.465593_465594delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11749_11750delinsCA MANE Select	ENSP00000360158.3:p.Gln3917=
ENST00000371117.7:c.11749_11750delinsCA	ENSP00000360158.3:p.Gln3917=
NM_138694.3:c.11749_11750delinsCA	NP_619639.3:p.Gln3917=
XM_011514679.1:c.11749_11750delinsCA	XP_011512981.1:p.Gln3917=
XM_011514680.1:c.11749_11750delinsCA	XP_011512982.1:p.Gln3917=
XM_011514681.1:c.11620_11621delinsCA	XP_011512983.1:p.Gln3874=
XM_011514682.1:c.11611_11612delinsCA	XP_011512984.1:p.Gln3871=
XM_011514683.1:c.11107_11108delinsCA	XP_011512985.1:p.Gln3703=
XM_011514684.1:c.11038_11039delinsCA	XP_011512986.1:p.Gln3680=
XM_011514690.1:c.5824_5825delinsCA	XP_011512992.1:p.Gln1942=
XM_011514691.1:c.5824_5825delinsCA	XP_011512993.1:p.Gln1942=
XM_011514680.3:c.11749_11750delinsCA	XP_011512982.1:p.Gln3917=
XM_011514682.3:c.11611_11612delinsCA	XP_011512984.1:p.Gln3871=
XM_011514683.3:c.11107_11108delinsCA	XP_011512985.1:p.Gln3703=
XM_011514684.3:c.11038_11039delinsCA	XP_011512986.1:p.Gln3680=
XM_011514690.3:c.5824_5825delinsCA	XP_011512992.1:p.Gln1942=
XM_011514691.3:c.5824_5825delinsCA	XP_011512993.1:p.Gln1942=
XM_017010944.2:c.11749_11750delinsCA	XP_016866433.1:p.Gln3917=
XM_017010945.2:c.11674_11675delinsCA	XP_016866434.1:p.Gln3892=
XM_017010946.2:c.11554_11555delinsCA	XP_016866435.1:p.Gln3852=
XM_017010947.2:c.11485_11486delinsCA	XP_016866436.1:p.Gln3829=
XM_017010948.2:c.11038_11039delinsCA	XP_016866437.1:p.Gln3680=
XM_017010949.2:c.9889_9890delinsCA	XP_016866438.1:p.Gln3297=
NM_138694.4:c.11749_11750delinsCA MANE Select	NP_619639.3:p.Gln3917=