Canonical Allele Identifier: CA1088989649

Gene: PKHD1

Linked Data

• gnomAD v3: 6-52045950-C-CTTT
• gnomAD v4: 6-52045950-C-CTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52045950_52045951insTTT , CM000668.2:g.52045950_52045951insTTT	GRCh38
NC_000006.11:g.51910748_51910749insTTT , CM000668.1:g.51910748_51910749insTTT	GRCh37
NC_000006.10:g.52018707_52018708insTTT	NCBI36
NG_008753.1:g.46675_46676insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.2592+53_2592+54insAAA MANE Select	ENSP00000360158.3:n.2592+53_2592+54insAAA
ENST00000340994.4:c.2592+53_2592+54insAAA	ENSP00000341097.4:n.2592+53_2592+54insAAA
ENST00000371117.7:c.2592+53_2592+54insAAA	ENSP00000360158.3:n.2592+53_2592+54insAAA
NM_138694.3:c.2592+53_2592+54insAAA	NP_619639.3:n.2592+53_2592+54insAAA
NM_170724.2:c.2592+53_2592+54insAAA	NP_733842.2:n.2592+53_2592+54insAAA
XM_011514679.1:c.2592+53_2592+54insAAA	XP_011512981.1:n.2592+53_2592+54insAAA
XM_011514680.1:c.2592+53_2592+54insAAA	XP_011512982.1:n.2592+53_2592+54insAAA
XM_011514681.1:c.2592+53_2592+54insAAA	XP_011512983.1:n.2592+53_2592+54insAAA
XM_011514682.1:c.2592+53_2592+54insAAA	XP_011512984.1:n.2592+53_2592+54insAAA
XM_011514683.1:c.2592+53_2592+54insAAA	XP_011512985.1:n.2592+53_2592+54insAAA
XM_011514684.1:c.1881+53_1881+54insAAA	XP_011512986.1:n.1881+53_1881+54insAAA
XM_011514685.1:c.2592+53_2592+54insAAA	XP_011512987.1:n.2592+53_2592+54insAAA
XM_011514686.1:c.2592+53_2592+54insAAA	XP_011512988.1:n.2592+53_2592+54insAAA
XM_011514687.1:c.2592+53_2592+54insAAA	XP_011512989.1:n.2592+53_2592+54insAAA
XM_011514688.1:c.2592+53_2592+54insAAA	XP_011512990.1:n.2592+53_2592+54insAAA
XM_011514689.1:c.2592+53_2592+54insAAA	XP_011512991.1:n.2592+53_2592+54insAAA
XM_011514680.3:c.2592+53_2592+54insAAA	XP_011512982.1:n.2592+53_2592+54insAAA
XM_011514682.3:c.2592+53_2592+54insAAA	XP_011512984.1:n.2592+53_2592+54insAAA
XM_011514683.3:c.2592+53_2592+54insAAA	XP_011512985.1:n.2592+53_2592+54insAAA
XM_011514684.3:c.1881+53_1881+54insAAA	XP_011512986.1:n.1881+53_1881+54insAAA
XM_011514686.2:c.2592+53_2592+54insAAA	XP_011512988.1:n.2592+53_2592+54insAAA
XM_011514688.2:c.2592+53_2592+54insAAA	XP_011512990.1:n.2592+53_2592+54insAAA
XM_017010944.2:c.2592+53_2592+54insAAA	XP_016866433.1:n.2592+53_2592+54insAAA
XM_017010945.2:c.2517+53_2517+54insAAA	XP_016866434.1:n.2517+53_2517+54insAAA
XM_017010946.2:c.2592+53_2592+54insAAA	XP_016866435.1:n.2592+53_2592+54insAAA
XM_017010947.2:c.2592+53_2592+54insAAA	XP_016866436.1:n.2592+53_2592+54insAAA
XM_017010948.2:c.1881+53_1881+54insAAA	XP_016866437.1:n.1881+53_1881+54insAAA
XM_017010949.2:c.732+53_732+54insAAA	XP_016866438.1:n.732+53_732+54insAAA
XM_017010950.1:c.2592+53_2592+54insAAA	XP_016866439.1:n.2592+53_2592+54insAAA
XM_017010951.1:c.2592+53_2592+54insAAA	XP_016866440.1:n.2592+53_2592+54insAAA
XM_017010952.1:c.2592+53_2592+54insAAA	XP_016866441.1:n.2592+53_2592+54insAAA
XR_001743469.1:n.2868+53_2868+54insAAA
NM_138694.4:c.2592+53_2592+54insAAA MANE Select	NP_619639.3:n.2592+53_2592+54insAAA
NM_170724.3:c.2592+53_2592+54insAAA	NP_733842.2:n.2592+53_2592+54insAAA