Canonical Allele Identifier: CA2711836624

Gene: PKHD1

Linked Data

• dbSNP Id: rs2128144917

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52025679_52025680del , CM000668.2:g.52025679_52025680del	GRCh38
NC_000006.11:g.51890477_51890478del , CM000668.1:g.51890477_51890478del	GRCh37
NC_000006.10:g.51998436_51998437del	NCBI36
NG_008753.1:g.66948_66949del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.4132_4133del MANE Select	ENSP00000360158.3:p.Met1378ValfsTer?
ENST00000340994.4:c.4132_4133del	ENSP00000341097.4:p.Met1378ValfsTer?
ENST00000371117.7:c.4132_4133del	ENSP00000360158.3:p.Met1378ValfsTer?
NM_138694.3:c.4132_4133del	NP_619639.3:p.Met1378ValfsTer?
NM_170724.2:c.4132_4133del	NP_733842.2:p.Met1378ValfsTer?
XM_011514679.1:c.4132_4133del	XP_011512981.1:p.Met1378ValfsTer?
XM_011514680.1:c.4132_4133del	XP_011512982.1:p.Met1378ValfsTer?
XM_011514681.1:c.4132_4133del	XP_011512983.1:p.Met1378ValfsTer?
XM_011514682.1:c.4132_4133del	XP_011512984.1:p.Met1378ValfsTer?
XM_011514683.1:c.4101+31_4101+32del	XP_011512985.1:n.4101+31_4101+32del
XM_011514684.1:c.3421_3422del	XP_011512986.1:p.Met1141ValfsTer?
XM_011514685.1:c.4132_4133del	XP_011512987.1:p.Met1378ValfsTer?
XM_011514686.1:c.4132_4133del	XP_011512988.1:p.Met1378ValfsTer?
XM_011514687.1:c.4132_4133del	XP_011512989.1:p.Met1378ValfsTer?
XM_011514688.1:c.4132_4133del	XP_011512990.1:p.Met1378ValfsTer?
XM_011514689.1:c.4132_4133del	XP_011512991.1:p.Met1378ValfsTer?
XM_011514680.3:c.4132_4133del	XP_011512982.1:p.Met1378ValfsTer?
XM_011514682.3:c.4132_4133del	XP_011512984.1:p.Met1378ValfsTer?
XM_011514683.3:c.4101+31_4101+32del	XP_011512985.1:n.4101+31_4101+32del
XM_011514684.3:c.3421_3422del	XP_011512986.1:p.Met1141ValfsTer?
XM_011514686.2:c.4132_4133del	XP_011512988.1:p.Met1378ValfsTer?
XM_011514688.2:c.4132_4133del	XP_011512990.1:p.Met1378ValfsTer?
XM_017010944.2:c.4132_4133del	XP_016866433.1:p.Met1378ValfsTer?
XM_017010945.2:c.4057_4058del	XP_016866434.1:p.Met1353ValfsTer?
XM_017010946.2:c.4132_4133del	XP_016866435.1:p.Met1378ValfsTer?
XM_017010947.2:c.3868_3869del	XP_016866436.1:p.Met1290ValfsTer?
XM_017010948.2:c.3421_3422del	XP_016866437.1:p.Met1141ValfsTer?
XM_017010949.2:c.2272_2273del	XP_016866438.1:p.Met758ValfsTer?
XM_017010950.1:c.4132_4133del	XP_016866439.1:p.Met1378ValfsTer?
XM_017010951.1:c.4132_4133del	XP_016866440.1:p.Met1378ValfsTer?
XM_017010952.1:c.4132_4133del	XP_016866441.1:p.Met1378ValfsTer?
XR_001743469.1:n.4408_4409del
NM_138694.4:c.4132_4133del MANE Select	NP_619639.3:p.Met1378ValfsTer?
NM_170724.3:c.4132_4133del	NP_733842.2:p.Met1378ValfsTer?