Canonical Allele Identifier: CA1628595281

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51886993_51886994delinsCA , CM000668.2:g.51886993_51886994delinsCA	GRCh38
NC_000006.11:g.51751791_51751792delinsCA , CM000668.1:g.51751791_51751792delinsCA	GRCh37
NC_000006.10:g.51859750_51859751delinsCA	NCBI36
NG_008753.1:g.205632_205633delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.7109+139_7109+140delinsTG MANE Select	ENSP00000360158.3:n.7109+139_7109+140delinsTG
ENST00000340994.4:c.7109+139_7109+140delinsTG	ENSP00000341097.4:n.7109+139_7109+140delinsTG
ENST00000371117.7:c.7109+139_7109+140delinsTG	ENSP00000360158.3:n.7109+139_7109+140delinsTG
NM_138694.3:c.7109+139_7109+140delinsTG	NP_619639.3:n.7109+139_7109+140delinsTG
NM_170724.2:c.7109+139_7109+140delinsTG	NP_733842.2:n.7109+139_7109+140delinsTG
XM_011514679.1:c.7109+139_7109+140delinsTG	XP_011512981.1:n.7109+139_7109+140delinsTG
XM_011514680.1:c.7109+139_7109+140delinsTG	XP_011512982.1:n.7109+139_7109+140delinsTG
XM_011514681.1:c.7109+139_7109+140delinsTG	XP_011512983.1:n.7109+139_7109+140delinsTG
XM_011514682.1:c.7109+139_7109+140delinsTG	XP_011512984.1:n.7109+139_7109+140delinsTG
XM_011514683.1:c.6467+139_6467+140delinsTG	XP_011512985.1:n.6467+139_6467+140delinsTG
XM_011514684.1:c.6398+139_6398+140delinsTG	XP_011512986.1:n.6398+139_6398+140delinsTG
XM_011514685.1:c.7109+139_7109+140delinsTG	XP_011512987.1:n.7109+139_7109+140delinsTG
XM_011514686.1:c.7109+139_7109+140delinsTG	XP_011512988.1:n.7109+139_7109+140delinsTG
XM_011514687.1:c.7109+139_7109+140delinsTG	XP_011512989.1:n.7109+139_7109+140delinsTG
XM_011514688.1:c.7109+139_7109+140delinsTG	XP_011512990.1:n.7109+139_7109+140delinsTG
XM_011514689.1:c.7109+139_7109+140delinsTG	XP_011512991.1:n.7109+139_7109+140delinsTG
XM_011514690.1:c.1184+139_1184+140delinsTG	XP_011512992.1:n.1184+139_1184+140delinsTG
XM_011514691.1:c.1184+139_1184+140delinsTG	XP_011512993.1:n.1184+139_1184+140delinsTG
XM_011514680.3:c.7109+139_7109+140delinsTG	XP_011512982.1:n.7109+139_7109+140delinsTG
XM_011514682.3:c.7109+139_7109+140delinsTG	XP_011512984.1:n.7109+139_7109+140delinsTG
XM_011514683.3:c.6467+139_6467+140delinsTG	XP_011512985.1:n.6467+139_6467+140delinsTG
XM_011514684.3:c.6398+139_6398+140delinsTG	XP_011512986.1:n.6398+139_6398+140delinsTG
XM_011514686.2:c.7109+139_7109+140delinsTG	XP_011512988.1:n.7109+139_7109+140delinsTG
XM_011514688.2:c.7109+139_7109+140delinsTG	XP_011512990.1:n.7109+139_7109+140delinsTG
XM_011514690.3:c.1184+139_1184+140delinsTG	XP_011512992.1:n.1184+139_1184+140delinsTG
XM_011514691.3:c.1184+139_1184+140delinsTG	XP_011512993.1:n.1184+139_1184+140delinsTG
XM_017010944.2:c.7109+139_7109+140delinsTG	XP_016866433.1:n.7109+139_7109+140delinsTG
XM_017010945.2:c.7034+139_7034+140delinsTG	XP_016866434.1:n.7034+139_7034+140delinsTG
XM_017010946.2:c.7109+139_7109+140delinsTG	XP_016866435.1:n.7109+139_7109+140delinsTG
XM_017010947.2:c.6845+139_6845+140delinsTG	XP_016866436.1:n.6845+139_6845+140delinsTG
XM_017010948.2:c.6398+139_6398+140delinsTG	XP_016866437.1:n.6398+139_6398+140delinsTG
XM_017010949.2:c.5249+139_5249+140delinsTG	XP_016866438.1:n.5249+139_5249+140delinsTG
XM_017010950.1:c.7109+139_7109+140delinsTG	XP_016866439.1:n.7109+139_7109+140delinsTG
XM_017010951.1:c.7109+139_7109+140delinsTG	XP_016866440.1:n.7109+139_7109+140delinsTG
XM_017010952.1:c.7109+139_7109+140delinsTG	XP_016866441.1:n.7109+139_7109+140delinsTG
XR_001743469.1:n.7385+139_7385+140delinsTG
NM_138694.4:c.7109+139_7109+140delinsTG MANE Select	NP_619639.3:n.7109+139_7109+140delinsTG
NM_170724.3:c.7109+139_7109+140delinsTG	NP_733842.2:n.7109+139_7109+140delinsTG