Canonical Allele Identifier: CA2059448596
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102854859_102854860delinsCT , CM000674.2:g.102854859_102854860delinsCT GRCh38
NC_000012.11:g.103248637_103248638delinsCT , CM000674.1:g.103248637_103248638delinsCT GRCh37
NC_000012.10:g.101772767_101772768delinsCT NCBI36
NG_008690.1:g.67743_67744delinsAG
NG_008690.2:g.108551_108552delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.706+276_706+277delinsAG MANE Select ENSP00000448059.1:n.706+276_706+277delinsAG
ENST00000307000.7:c.691+276_691+277delinsAG ENSP00000303500.2:n.691+276_691+277delinsAG
ENST00000549111.5:n.1078_1079delinsAG
ENST00000553106.5:c.706+276_706+277delinsAG ENSP00000448059.1:n.706+276_706+277delinsAG
NM_000277.1:c.706+276_706+277delinsAG NP_000268.1:n.706+276_706+277delinsAG
XM_011538422.1:c.706+276_706+277delinsAG XP_011536724.1:n.706+276_706+277delinsAG
NM_000277.2:c.706+276_706+277delinsAG NP_000268.1:n.706+276_706+277delinsAG
NM_001354304.1:c.706+276_706+277delinsAG NP_001341233.1:n.706+276_706+277delinsAG
XM_017019370.2:c.707-59_707-58delinsAG XP_016874859.1:n.707-59_707-58delinsAG
NM_000277.3:c.706+276_706+277delinsAG MANE Select NP_000268.1:n.706+276_706+277delinsAG
NM_001354304.2:c.706+276_706+277delinsAG NP_001341233.1:n.706+276_706+277delinsAG
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