Canonical Allele Identifier: CA243614987

Gene: PHETA1

Linked Data

• dbSNP Id: rs3840795
• MyVariant Identifiers: chr12:g.111800826_111800827insGCCACCCCC (hg19) ; chr12:g.111363022_111363023insGCCACCCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.111363028_111363036dup , CM000674.2:g.111363028_111363036dup	GRCh38
NC_000012.11:g.111800832_111800840dup , CM000674.1:g.111800832_111800840dup	GRCh37
NC_000012.10:g.110285215_110285223dup	NCBI36
NG_021347.1:g.11091_11099dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000683047.1:c.397_405dup MANE Select	ENSP00000507123.1:p.Gly135_Met136insGlyGl...
ENST00000361483.4:c.436_444dup	ENSP00000354461.3:p.Gly148_Met149insGlyGl...
ENST00000547838.2:c.397_405dup	ENSP00000447353.1:p.Gly135_Met136insGlyGl...
ENST00000548163.1:c.397_405dup	ENSP00000449994.1:p.Gly135_Met136insGlyGl...
NM_001177996.1:c.436_444dup	NP_001171467.1:p.Gly148_Met149insGlyGlyGl...
NM_001177997.1:c.397_405dup	NP_001171468.1:p.Gly135_Met136insGlyGlyGl...
NM_144671.4:c.397_405dup	NP_653272.2:p.Gly135_Met136insGlyGlyGly
XM_006719257.2:c.397_405dup	XP_006719320.1:p.Gly135_Met136insGlyGlyGl...
XM_011537976.1:c.397_405dup	XP_011536278.1:p.Gly135_Met136insGlyGlyGl...
XM_006719257.3:c.397_405dup	XP_006719320.1:p.Gly135_Met136insGlyGlyGl...
XM_011537976.2:c.397_405dup	XP_011536278.1:p.Gly135_Met136insGlyGlyGl...
XM_017018883.1:c.397_405dup	XP_016874372.1:p.Gly135_Met136insGlyGlyGl...
NM_001177996.2:c.436_444dup	NP_001171467.1:p.Gly148_Met149insGlyGlyGl...
NM_001177997.2:c.397_405dup	NP_001171468.1:p.Gly135_Met136insGlyGlyGl...
NM_144671.5:c.397_405dup	NP_653272.2:p.Gly135_Met136insGlyGlyGly
NM_001177996.3:c.436_444dup	NP_001171467.1:p.Gly148_Met149insGlyGlyGl...
NM_001177997.3:c.397_405dup	NP_001171468.1:p.Gly135_Met136insGlyGlyGl...
NM_144671.6:c.397_405dup MANE Select	NP_653272.2:p.Gly135_Met136insGlyGlyGly