Canonical Allele Identifier: CA916084428
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102878710_102879609del , CM000674.2:g.102878710_102879609del GRCh38
NC_000012.11:g.103272488_103273387del , CM000674.1:g.103272488_103273387del GRCh37
NC_000012.10:g.101796618_101797517del NCBI36
NG_008690.1:g.42994_43893del
NG_008690.2:g.83802_84701del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.353-2059_353-1160del MANE Select ENSP00000448059.1:n.353-2059_353-1160del
ENST00000307000.7:c.338-2059_338-1160del ENSP00000303500.2:n.338-2059_338-1160del
ENST00000549111.5:n.449-2059_449-1160del
ENST00000550978.6:c.337-2059_337-1160del
ENST00000551337.5:c.353-2059_353-1160del ENSP00000447620.1:n.353-2059_353-1160del
ENST00000551988.5:n.442-2059_442-1160del
ENST00000553106.5:c.353-2059_353-1160del ENSP00000448059.1:n.353-2059_353-1160del
NM_000277.1:c.353-2059_353-1160del NP_000268.1:n.353-2059_353-1160del
XM_011538422.1:c.353-2059_353-1160del XP_011536724.1:n.353-2059_353-1160del
NM_000277.2:c.353-2059_353-1160del NP_000268.1:n.353-2059_353-1160del
NM_001354304.1:c.353-2059_353-1160del NP_001341233.1:n.353-2059_353-1160del
XM_017019370.2:c.353-2059_353-1160del XP_016874859.1:n.353-2059_353-1160del
NM_000277.3:c.353-2059_353-1160del MANE Select NP_000268.1:n.353-2059_353-1160del
NM_001354304.2:c.353-2059_353-1160del NP_001341233.1:n.353-2059_353-1160del
Search 100 bp 5'
Search 100 bp 3'