Canonical Allele Identifier: CA2620515471
Gene: PAH HGNC NCBI

Linked Data

ClinVar Variation Id: 2694000
ClinVar RCV Id: RCV003495401
gnomAD v4: 12-102852963-GAAGA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102852970_102852973del , CM000674.2:g.102852970_102852973del GRCh38
NC_000012.11:g.103246748_103246751del , CM000674.1:g.103246748_103246751del GRCh37
NC_000012.10:g.101770878_101770881del NCBI36
NG_008690.1:g.69636_69639del
NG_008690.2:g.110444_110447del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.707-17_707-14del MANE Select ENSP00000448059.1:n.707-17_707-14del
ENST00000307000.7:c.692-17_692-14del ENSP00000303500.2:n.692-17_692-14del
ENST00000549247.6:n.449_452del
ENST00000553106.5:c.707-17_707-14del ENSP00000448059.1:n.707-17_707-14del
NM_000277.1:c.707-17_707-14del NP_000268.1:n.707-17_707-14del
XM_011538422.1:c.707-17_707-14del XP_011536724.1:n.707-17_707-14del
NM_000277.2:c.707-17_707-14del NP_000268.1:n.707-17_707-14del
NM_001354304.1:c.707-17_707-14del NP_001341233.1:n.707-17_707-14del
NM_000277.3:c.707-17_707-14del MANE Select NP_000268.1:n.707-17_707-14del
NM_001354304.2:c.707-17_707-14del NP_001341233.1:n.707-17_707-14del
Search 100 bp 5'
Search 100 bp 3'