Canonical Allele Identifier: CA2695206428

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748269del , CM000668.2:g.51748269del	GRCh38
NC_000006.11:g.51613067del , CM000668.1:g.51613067del	GRCh37
NC_000006.10:g.51721026del	NCBI36
NG_008753.1:g.344357del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9347del MANE Select	ENSP00000360158.3:p.Leu3116ArgfsTer?
ENST00000340994.4:c.9347del	ENSP00000341097.4:p.Leu3116ArgfsTer?
ENST00000371117.7:c.9347del	ENSP00000360158.3:p.Leu3116ArgfsTer?
NM_138694.3:c.9347del	NP_619639.3:p.Leu3116ArgfsTer?
NM_170724.2:c.9347del	NP_733842.2:p.Leu3116ArgfsTer?
XM_011514679.1:c.9347del	XP_011512981.1:p.Leu3116ArgfsTer?
XM_011514680.1:c.9347del	XP_011512982.1:p.Leu3116ArgfsTer?
XM_011514681.1:c.9218del	XP_011512983.1:p.Leu3073ArgfsTer?
XM_011514682.1:c.9209del	XP_011512984.1:p.Leu3070ArgfsTer?
XM_011514683.1:c.8705del	XP_011512985.1:p.Leu2902ArgfsTer?
XM_011514684.1:c.8636del	XP_011512986.1:p.Leu2879ArgfsTer?
XM_011514685.1:c.9347del	XP_011512987.1:p.Leu3116ArgfsTer?
XM_011514686.1:c.9347del	XP_011512988.1:p.Leu3116ArgfsTer?
XM_011514687.1:c.9347del	XP_011512989.1:p.Leu3116ArgfsTer?
XM_011514688.1:c.9347del	XP_011512990.1:p.Leu3116ArgfsTer?
XM_011514690.1:c.3422del	XP_011512992.1:p.Leu1141ArgfsTer?
XM_011514691.1:c.3422del	XP_011512993.1:p.Leu1141ArgfsTer?
XM_011514680.3:c.9347del	XP_011512982.1:p.Leu3116ArgfsTer?
XM_011514682.3:c.9209del	XP_011512984.1:p.Leu3070ArgfsTer?
XM_011514683.3:c.8705del	XP_011512985.1:p.Leu2902ArgfsTer?
XM_011514684.3:c.8636del	XP_011512986.1:p.Leu2879ArgfsTer?
XM_011514686.2:c.9347del	XP_011512988.1:p.Leu3116ArgfsTer?
XM_011514688.2:c.9347del	XP_011512990.1:p.Leu3116ArgfsTer?
XM_011514690.3:c.3422del	XP_011512992.1:p.Leu1141ArgfsTer?
XM_011514691.3:c.3422del	XP_011512993.1:p.Leu1141ArgfsTer?
XM_017010944.2:c.9347del	XP_016866433.1:p.Leu3116ArgfsTer?
XM_017010945.2:c.9272del	XP_016866434.1:p.Leu3091ArgfsTer?
XM_017010946.2:c.9152del	XP_016866435.1:p.Leu3051ArgfsTer?
XM_017010947.2:c.9083del	XP_016866436.1:p.Leu3028ArgfsTer?
XM_017010948.2:c.8636del	XP_016866437.1:p.Leu2879ArgfsTer?
XM_017010949.2:c.7487del	XP_016866438.1:p.Leu2496ArgfsTer?
XM_017010950.1:c.9347del	XP_016866439.1:p.Leu3116ArgfsTer?
XR_001743469.1:n.9623del
NM_138694.4:c.9347del MANE Select	NP_619639.3:p.Leu3116ArgfsTer?
NM_170724.3:c.9347del	NP_733842.2:p.Leu3116ArgfsTer?