Canonical Allele Identifier: CA567278223

Gene: PKHD1

Linked Data

• dbSNP Id: rs1375939258
• gnomAD v2: 6-51491830-TG-T
• gnomAD v4: 6-51627032-TG-T
• MyVariant Identifiers: chr6:g.51491831del (hg19) ; chr6:g.51627033del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627033del , CM000668.2:g.51627033del	GRCh38
NC_000006.11:g.51491831del , CM000668.1:g.51491831del	GRCh37
NC_000006.10:g.51599790del	NCBI36
NG_008753.1:g.465593del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11749del MANE Select	ENSP00000360158.3:p.Gln3917LysfsTer14
ENST00000371117.7:c.11749del	ENSP00000360158.3:p.Gln3917LysfsTer14
NM_138694.3:c.11749del	NP_619639.3:p.Gln3917LysfsTer14
XM_011514679.1:c.11749del	XP_011512981.1:p.Gln3917LysfsTer14
XM_011514680.1:c.11749del	XP_011512982.1:p.Gln3917LysfsTer14
XM_011514681.1:c.11620del	XP_011512983.1:p.Gln3874LysfsTer14
XM_011514682.1:c.11611del	XP_011512984.1:p.Gln3871LysfsTer14
XM_011514683.1:c.11107del	XP_011512985.1:p.Gln3703LysfsTer14
XM_011514684.1:c.11038del	XP_011512986.1:p.Gln3680LysfsTer14
XM_011514690.1:c.5824del	XP_011512992.1:p.Gln1942LysfsTer14
XM_011514691.1:c.5824del	XP_011512993.1:p.Gln1942LysfsTer14
XM_011514680.3:c.11749del	XP_011512982.1:p.Gln3917LysfsTer14
XM_011514682.3:c.11611del	XP_011512984.1:p.Gln3871LysfsTer14
XM_011514683.3:c.11107del	XP_011512985.1:p.Gln3703LysfsTer14
XM_011514684.3:c.11038del	XP_011512986.1:p.Gln3680LysfsTer14
XM_011514690.3:c.5824del	XP_011512992.1:p.Gln1942LysfsTer14
XM_011514691.3:c.5824del	XP_011512993.1:p.Gln1942LysfsTer14
XM_017010944.2:c.11749del	XP_016866433.1:p.Gln3917LysfsTer14
XM_017010945.2:c.11674del	XP_016866434.1:p.Gln3892LysfsTer14
XM_017010946.2:c.11554del	XP_016866435.1:p.Gln3852LysfsTer14
XM_017010947.2:c.11485del	XP_016866436.1:p.Gln3829LysfsTer14
XM_017010948.2:c.11038del	XP_016866437.1:p.Gln3680LysfsTer14
XM_017010949.2:c.9889del	XP_016866438.1:p.Gln3297LysfsTer14
NM_138694.4:c.11749del MANE Select	NP_619639.3:p.Gln3917LysfsTer14