Canonical Allele Identifier: CA2695198880

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 2677837
• ClinVar RCV Id: RCV003471680

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52025247_52025273delinsT , CM000668.2:g.52025247_52025273delinsT	GRCh38
NC_000006.11:g.51890045_51890071delinsT , CM000668.1:g.51890045_51890071delinsT	GRCh37
NC_000006.10:g.51998004_51998030delinsT	NCBI36
NG_008753.1:g.67353_67379delinsA

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.4537_4563delinsA MANE Select	ENSP00000360158.3:p.Ala1513ArgfsTer11
ENST00000340994.4:c.4537_4563delinsA	ENSP00000341097.4:p.Ala1513ArgfsTer11
ENST00000371117.7:c.4537_4563delinsA	ENSP00000360158.3:p.Ala1513ArgfsTer11
NM_138694.3:c.4537_4563delinsA	NP_619639.3:p.Ala1513ArgfsTer11
NM_170724.2:c.4537_4563delinsA	NP_733842.2:p.Ala1513ArgfsTer11
XM_011514679.1:c.4537_4563delinsA	XP_011512981.1:p.Ala1513ArgfsTer11
XM_011514680.1:c.4537_4563delinsA	XP_011512982.1:p.Ala1513ArgfsTer11
XM_011514681.1:c.4537_4563delinsA	XP_011512983.1:p.Ala1513ArgfsTer11
XM_011514682.1:c.4537_4563delinsA	XP_011512984.1:p.Ala1513ArgfsTer11
XM_011514683.1:c.4102-207_4102-181delinsA	XP_011512985.1:n.4102-207_4102-181delinsA...
XM_011514684.1:c.3826_3852delinsA	XP_011512986.1:p.Ala1276ArgfsTer11
XM_011514685.1:c.4537_4563delinsA	XP_011512987.1:p.Ala1513ArgfsTer11
XM_011514686.1:c.4537_4563delinsA	XP_011512988.1:p.Ala1513ArgfsTer11
XM_011514687.1:c.4537_4563delinsA	XP_011512989.1:p.Ala1513ArgfsTer11
XM_011514688.1:c.4537_4563delinsA	XP_011512990.1:p.Ala1513ArgfsTer11
XM_011514689.1:c.4537_4563delinsA	XP_011512991.1:p.Ala1513ArgfsTer11
XM_011514680.3:c.4537_4563delinsA	XP_011512982.1:p.Ala1513ArgfsTer11
XM_011514682.3:c.4537_4563delinsA	XP_011512984.1:p.Ala1513ArgfsTer11
XM_011514683.3:c.4102-207_4102-181delinsA	XP_011512985.1:n.4102-207_4102-181delinsA...
XM_011514684.3:c.3826_3852delinsA	XP_011512986.1:p.Ala1276ArgfsTer11
XM_011514686.2:c.4537_4563delinsA	XP_011512988.1:p.Ala1513ArgfsTer11
XM_011514688.2:c.4537_4563delinsA	XP_011512990.1:p.Ala1513ArgfsTer11
XM_017010944.2:c.4537_4563delinsA	XP_016866433.1:p.Ala1513ArgfsTer11
XM_017010945.2:c.4462_4488delinsA	XP_016866434.1:p.Ala1488ArgfsTer11
XM_017010946.2:c.4537_4563delinsA	XP_016866435.1:p.Ala1513ArgfsTer11
XM_017010947.2:c.4273_4299delinsA	XP_016866436.1:p.Ala1425ArgfsTer11
XM_017010948.2:c.3826_3852delinsA	XP_016866437.1:p.Ala1276ArgfsTer11
XM_017010949.2:c.2677_2703delinsA	XP_016866438.1:p.Ala893ArgfsTer11
XM_017010950.1:c.4537_4563delinsA	XP_016866439.1:p.Ala1513ArgfsTer11
XM_017010951.1:c.4537_4563delinsA	XP_016866440.1:p.Ala1513ArgfsTer11
XM_017010952.1:c.4537_4563delinsA	XP_016866441.1:p.Ala1513ArgfsTer11
XR_001743469.1:n.4813_4839delinsA
NM_138694.4:c.4537_4563delinsA MANE Select	NP_619639.3:p.Ala1513ArgfsTer11
NM_170724.3:c.4537_4563delinsA	NP_733842.2:p.Ala1513ArgfsTer11