Canonical Allele Identifier: CA2059448543
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854814_102854815delinsCA , CM000674.2:g.102854814_102854815delinsCA GRCh38
NC_000012.11:g.103248592_103248593delinsCA , CM000674.1:g.103248592_103248593delinsCA GRCh37
NC_000012.10:g.101772722_101772723delinsCA NCBI36
NG_008690.1:g.67788_67789delinsTG
NG_008690.2:g.108596_108597delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+321_706+322delinsTG MANE Select ENSP00000448059.1:n.706+321_706+322delinsTG
ENST00000307000.7:c.691+321_691+322delinsTG ENSP00000303500.2:n.691+321_691+322delinsTG
ENST00000549111.5:n.1123_1124delinsTG
ENST00000553106.5:c.706+321_706+322delinsTG ENSP00000448059.1:n.706+321_706+322delinsTG
NM_000277.1:c.706+321_706+322delinsTG NP_000268.1:n.706+321_706+322delinsTG
XM_011538422.1:c.706+321_706+322delinsTG XP_011536724.1:n.706+321_706+322delinsTG
NM_000277.2:c.706+321_706+322delinsTG NP_000268.1:n.706+321_706+322delinsTG
NM_001354304.1:c.706+321_706+322delinsTG NP_001341233.1:n.706+321_706+322delinsTG
XM_017019370.2:c.707-14_707-13delinsTG XP_016874859.1:n.707-14_707-13delinsTG
NM_000277.3:c.706+321_706+322delinsTG MANE Select NP_000268.1:n.706+321_706+322delinsTG
NM_001354304.2:c.706+321_706+322delinsTG NP_001341233.1:n.706+321_706+322delinsTG
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