Canonical Allele Identifier: CA2539393015

Gene: PHIP

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.79042923dup , CM000668.2:g.79042923dup	GRCh38
NC_000006.11:g.79752640dup , CM000668.1:g.79752640dup	GRCh37
NC_000006.10:g.79809359dup	NCBI36
NG_051932.1:g.40379dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700012.1:c.541dup	ENSP00000514753.1:p.Met181AsnfsTer3
ENST00000700013.1:c.541dup	ENSP00000514754.1:p.Met181AsnfsTer3
ENST00000700114.1:c.463dup	ENSP00000514808.1:p.Met155AsnfsTer3
ENST00000700115.1:c.523dup	ENSP00000514809.1:p.Met175AsnfsTer3
ENST00000700118.1:c.523dup	ENSP00000514810.1:p.Met175AsnfsTer3
ENST00000700119.1:c.*334dup	ENSP00000514811.1:n.*334dup
ENST00000700120.1:n.451dup
ENST00000275034.5:c.523dup MANE Select	ENSP00000275034.3:p.Met175AsnfsTer3
ENST00000275034.4:c.523dup	ENSP00000275034.3:p.Met175AsnfsTer3
NM_017934.5:c.523dup	NP_060404.3:p.Met175AsnfsTer3
XM_005248729.3:c.523dup	XP_005248786.1:p.Met175AsnfsTer3
XM_011535917.1:c.523dup	XP_011534219.1:p.Met175AsnfsTer3
XM_011535918.1:c.7dup	XP_011534220.1:p.Met3AsnfsTer3
XM_011535919.1:c.523dup	XP_011534221.1:p.Met175AsnfsTer3
XR_942499.1:n.749dup
NM_017934.6:c.523dup	NP_060404.4:p.Met175AsnfsTer3
XM_005248729.5:c.523dup	XP_005248786.1:p.Met175AsnfsTer3
XM_011535918.3:c.7dup	XP_011534220.1:p.Met3AsnfsTer3
XM_017010989.2:c.-1207dup	XP_016866478.1:n.-1207dup
XM_017010990.2:c.-1207dup	XP_016866479.1:n.-1207dup
NM_017934.7:c.523dup MANE Select	NP_060404.4:p.Met175AsnfsTer3