Canonical Allele Identifier: CA825699169

Gene: PKHD1

Linked Data

• dbSNP Id: rs1307312276
• MyVariant Identifiers: chr6:g.51612942del (hg19) ; chr6:g.51748144del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748144del , CM000668.2:g.51748144del	GRCh38
NC_000006.11:g.51612942del , CM000668.1:g.51612942del	GRCh37
NC_000006.10:g.51720901del	NCBI36
NG_008753.1:g.344482del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9472del MANE Select	ENSP00000360158.3:p.Met3158CysfsTer4
ENST00000340994.4:c.9472del	ENSP00000341097.4:p.Met3158CysfsTer4
ENST00000371117.7:c.9472del	ENSP00000360158.3:p.Met3158CysfsTer4
NM_138694.3:c.9472del	NP_619639.3:p.Met3158CysfsTer4
NM_170724.2:c.9472del	NP_733842.2:p.Met3158CysfsTer4
XM_011514679.1:c.9472del	XP_011512981.1:p.Met3158CysfsTer4
XM_011514680.1:c.9472del	XP_011512982.1:p.Met3158CysfsTer4
XM_011514681.1:c.9343del	XP_011512983.1:p.Met3115CysfsTer4
XM_011514682.1:c.9334del	XP_011512984.1:p.Met3112CysfsTer4
XM_011514683.1:c.8830del	XP_011512985.1:p.Met2944CysfsTer4
XM_011514684.1:c.8761del	XP_011512986.1:p.Met2921CysfsTer4
XM_011514685.1:c.9472del	XP_011512987.1:p.Met3158CysfsTer4
XM_011514686.1:c.9472del	XP_011512988.1:p.Met3158CysfsTer4
XM_011514687.1:c.9472del	XP_011512989.1:p.Met3158CysfsTer4
XM_011514688.1:c.9472del	XP_011512990.1:p.Met3158CysfsTer4
XM_011514690.1:c.3547del	XP_011512992.1:p.Met1183CysfsTer4
XM_011514691.1:c.3547del	XP_011512993.1:p.Met1183CysfsTer4
XM_011514680.3:c.9472del	XP_011512982.1:p.Met3158CysfsTer4
XM_011514682.3:c.9334del	XP_011512984.1:p.Met3112CysfsTer4
XM_011514683.3:c.8830del	XP_011512985.1:p.Met2944CysfsTer4
XM_011514684.3:c.8761del	XP_011512986.1:p.Met2921CysfsTer4
XM_011514686.2:c.9472del	XP_011512988.1:p.Met3158CysfsTer4
XM_011514688.2:c.9472del	XP_011512990.1:p.Met3158CysfsTer4
XM_011514690.3:c.3547del	XP_011512992.1:p.Met1183CysfsTer4
XM_011514691.3:c.3547del	XP_011512993.1:p.Met1183CysfsTer4
XM_017010944.2:c.9472del	XP_016866433.1:p.Met3158CysfsTer4
XM_017010945.2:c.9397del	XP_016866434.1:p.Met3133CysfsTer4
XM_017010946.2:c.9277del	XP_016866435.1:p.Met3093CysfsTer4
XM_017010947.2:c.9208del	XP_016866436.1:p.Met3070CysfsTer4
XM_017010948.2:c.8761del	XP_016866437.1:p.Met2921CysfsTer4
XM_017010949.2:c.7612del	XP_016866438.1:p.Met2538CysfsTer4
XM_017010950.1:c.9472del	XP_016866439.1:p.Met3158CysfsTer4
XR_001743469.1:n.9748del
NM_138694.4:c.9472del MANE Select	NP_619639.3:p.Met3158CysfsTer4
NM_170724.3:c.9472del	NP_733842.2:p.Met3158CysfsTer4