Canonical Allele Identifier: CA2059450128
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102855471_102855473delinsAAG , CM000674.2:g.102855471_102855473delinsAAG GRCh38
NC_000012.11:g.103249249_103249251delinsAAG , CM000674.1:g.103249249_103249251delinsAAG GRCh37
NC_000012.10:g.101773379_101773381delinsAAG NCBI36
NG_008690.1:g.67130_67132delinsCTT
NG_008690.2:g.107938_107940delinsCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.510-141_510-139delinsCTT MANE Select ENSP00000448059.1:n.510-141_510-139delinsCTT
ENST00000307000.7:c.495-141_495-139delinsCTT ENSP00000303500.2:n.495-141_495-139delinsCTT
ENST00000549111.5:n.606-141_606-139delinsCTT
ENST00000551988.5:n.531-141_531-139delinsCTT
ENST00000553106.5:c.510-141_510-139delinsCTT ENSP00000448059.1:n.510-141_510-139delinsCTT
NM_000277.1:c.510-141_510-139delinsCTT NP_000268.1:n.510-141_510-139delinsCTT
XM_011538422.1:c.510-141_510-139delinsCTT XP_011536724.1:n.510-141_510-139delinsCTT
NM_000277.2:c.510-141_510-139delinsCTT NP_000268.1:n.510-141_510-139delinsCTT
NM_001354304.1:c.510-141_510-139delinsCTT NP_001341233.1:n.510-141_510-139delinsCTT
XM_017019370.2:c.510-141_510-139delinsCTT XP_016874859.1:n.510-141_510-139delinsCTT
NM_000277.3:c.510-141_510-139delinsCTT MANE Select NP_000268.1:n.510-141_510-139delinsCTT
NM_001354304.2:c.510-141_510-139delinsCTT NP_001341233.1:n.510-141_510-139delinsCTT
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