Canonical Allele Identifier: CA2620526763
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102840388-TA-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840391del , CM000674.2:g.102840391del GRCh38
NC_000012.11:g.103234169del , CM000674.1:g.103234169del GRCh37
NC_000012.10:g.101758299del NCBI36
NG_008690.1:g.82214del
NG_008690.2:g.123022del

Transcript Alleles

HGVS Amino-acid change
ENST00000553106.6:c.1315+11del MANE Select ENSP00000448059.1:n.1315+11del
ENST00000307000.7:c.1300+11del ENSP00000303500.2:n.1300+11del
ENST00000551114.2:n.977+11del
ENST00000553106.5:c.1315+11del ENSP00000448059.1:n.1315+11del
ENST00000635477.1:c.419+11del
ENST00000635528.1:n.830+11del
NM_000277.1:c.1315+11del NP_000268.1:n.1315+11del
XM_011538422.1:c.1258+11del XP_011536724.1:n.1258+11del
NM_000277.2:c.1315+11del NP_000268.1:n.1315+11del
NM_001354304.1:c.1315+11del NP_001341233.1:n.1315+11del
NM_000277.3:c.1315+11del MANE Select NP_000268.1:n.1315+11del
NM_001354304.2:c.1315+11del NP_001341233.1:n.1315+11del
Search 100 bp 5'
Search 100 bp 3'