Canonical Allele Identifier: CA658821469

Gene: PAH

Linked Data

• ClinVar Variation Id: 552818
• ClinVar RCV Id: RCV000668153
• dbSNP Id: rs1555207969
• gnomAD v4: 12-102894742-TTTC-T
• MyVariant Identifiers: chr12:g.102894743_102894745del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102894748_102894750del , CM000674.2:g.102894748_102894750del	GRCh38
NC_000012.11:g.103288526_103288528del , CM000674.1:g.103288526_103288528del	GRCh37
NC_000012.10:g.101812656_101812658del	NCBI36
NG_008690.1:g.27858_27860del
NG_008690.2:g.68666_68668del

Transcript Alleles

HGVS	Amino-acid change
ENST00000553106.6:c.342_344del MANE Select	ENSP00000448059.1:p.Lys115del
ENST00000307000.7:c.327_329del	ENSP00000303500.2:p.Lys110del
ENST00000546844.1:c.342_344del	ENSP00000446658.1:p.Lys115del
ENST00000548928.1:n.264_266del
ENST00000549111.5:n.438_440del
ENST00000550978.6:c.326_328del
ENST00000551337.5:c.342_344del	ENSP00000447620.1:p.Lys115del
ENST00000551988.5:n.431_433del
ENST00000553106.5:c.342_344del	ENSP00000448059.1:p.Lys115del
NM_000277.1:c.342_344del	NP_000268.1:p.Lys115del
XM_011538422.1:c.342_344del	XP_011536724.1:p.Lys115del
NM_000277.2:c.342_344del	NP_000268.1:p.Lys115del
NM_001354304.1:c.342_344del	NP_001341233.1:p.Lys115del
XM_017019370.2:c.342_344del	XP_016874859.1:p.Lys115del
NM_000277.3:c.342_344del MANE Select	NP_000268.1:p.Lys115del
NM_001354304.2:c.342_344del	NP_001341233.1:p.Lys115del