Canonical Allele Identifier: CA2679078642

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51748585-C-CAGGT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748585_51748586insAGGT , CM000668.2:g.51748585_51748586insAGGT	GRCh38
NC_000006.11:g.51613383_51613384insAGGT , CM000668.1:g.51613383_51613384insAGGT	GRCh37
NC_000006.10:g.51721342_51721343insAGGT	NCBI36
NG_008753.1:g.344040_344041insACCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9030_9031insACCT MANE Select	ENSP00000360158.3:p.Ala3011ThrfsTer31
ENST00000340994.4:c.9030_9031insACCT	ENSP00000341097.4:p.Ala3011ThrfsTer31
ENST00000371117.7:c.9030_9031insACCT	ENSP00000360158.3:p.Ala3011ThrfsTer31
NM_138694.3:c.9030_9031insACCT	NP_619639.3:p.Ala3011ThrfsTer31
NM_170724.2:c.9030_9031insACCT	NP_733842.2:p.Ala3011ThrfsTer31
XM_011514679.1:c.9030_9031insACCT	XP_011512981.1:p.Ala3011ThrfsTer31
XM_011514680.1:c.9030_9031insACCT	XP_011512982.1:p.Ala3011ThrfsTer31
XM_011514681.1:c.8901_8902insACCT	XP_011512983.1:p.Ala2968ThrfsTer31
XM_011514682.1:c.8892_8893insACCT	XP_011512984.1:p.Ala2965ThrfsTer31
XM_011514683.1:c.8388_8389insACCT	XP_011512985.1:p.Ala2797ThrfsTer31
XM_011514684.1:c.8319_8320insACCT	XP_011512986.1:p.Ala2774ThrfsTer31
XM_011514685.1:c.9030_9031insACCT	XP_011512987.1:p.Ala3011ThrfsTer31
XM_011514686.1:c.9030_9031insACCT	XP_011512988.1:p.Ala3011ThrfsTer31
XM_011514687.1:c.9030_9031insACCT	XP_011512989.1:p.Ala3011ThrfsTer31
XM_011514688.1:c.9030_9031insACCT	XP_011512990.1:p.Ala3011ThrfsTer31
XM_011514690.1:c.3105_3106insACCT	XP_011512992.1:p.Ala1036ThrfsTer31
XM_011514691.1:c.3105_3106insACCT	XP_011512993.1:p.Ala1036ThrfsTer31
XM_011514680.3:c.9030_9031insACCT	XP_011512982.1:p.Ala3011ThrfsTer31
XM_011514682.3:c.8892_8893insACCT	XP_011512984.1:p.Ala2965ThrfsTer31
XM_011514683.3:c.8388_8389insACCT	XP_011512985.1:p.Ala2797ThrfsTer31
XM_011514684.3:c.8319_8320insACCT	XP_011512986.1:p.Ala2774ThrfsTer31
XM_011514686.2:c.9030_9031insACCT	XP_011512988.1:p.Ala3011ThrfsTer31
XM_011514688.2:c.9030_9031insACCT	XP_011512990.1:p.Ala3011ThrfsTer31
XM_011514690.3:c.3105_3106insACCT	XP_011512992.1:p.Ala1036ThrfsTer31
XM_011514691.3:c.3105_3106insACCT	XP_011512993.1:p.Ala1036ThrfsTer31
XM_017010944.2:c.9030_9031insACCT	XP_016866433.1:p.Ala3011ThrfsTer31
XM_017010945.2:c.8955_8956insACCT	XP_016866434.1:p.Ala2986ThrfsTer31
XM_017010946.2:c.8835_8836insACCT	XP_016866435.1:p.Ala2946ThrfsTer31
XM_017010947.2:c.8766_8767insACCT	XP_016866436.1:p.Ala2923ThrfsTer31
XM_017010948.2:c.8319_8320insACCT	XP_016866437.1:p.Ala2774ThrfsTer31
XM_017010949.2:c.7170_7171insACCT	XP_016866438.1:p.Ala2391ThrfsTer31
XM_017010950.1:c.9030_9031insACCT	XP_016866439.1:p.Ala3011ThrfsTer31
XR_001743469.1:n.9306_9307insACCT
NM_138694.4:c.9030_9031insACCT MANE Select	NP_619639.3:p.Ala3011ThrfsTer31
NM_170724.3:c.9030_9031insACCT	NP_733842.2:p.Ala3011ThrfsTer31