Canonical Allele Identifier: CA2059448968
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102844662_102844663delinsGA , CM000674.2:g.102844662_102844663delinsGA GRCh38
NC_000012.11:g.103238440_103238441delinsGA , CM000674.1:g.103238440_103238441delinsGA GRCh37
NC_000012.10:g.101762570_101762571delinsGA NCBI36
NG_008690.1:g.77940_77941delinsTC
NG_008690.2:g.118748_118749delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.970-232_970-231delinsTC MANE Select ENSP00000448059.1:n.970-232_970-231delinsTC
ENST00000307000.7:c.955-232_955-231delinsTC ENSP00000303500.2:n.955-232_955-231delinsTC
ENST00000549247.6:n.729-232_729-231delinsTC
ENST00000551114.2:n.632-232_632-231delinsTC
ENST00000553106.5:c.970-232_970-231delinsTC ENSP00000448059.1:n.970-232_970-231delinsTC
ENST00000635477.1:c.74-232_74-231delinsTC
ENST00000635528.1:n.485-232_485-231delinsTC
NM_000277.1:c.970-232_970-231delinsTC NP_000268.1:n.970-232_970-231delinsTC
XM_011538422.1:c.913-232_913-231delinsTC XP_011536724.1:n.913-232_913-231delinsTC
NM_000277.2:c.970-232_970-231delinsTC NP_000268.1:n.970-232_970-231delinsTC
NM_001354304.1:c.970-232_970-231delinsTC NP_001341233.1:n.970-232_970-231delinsTC
NM_000277.3:c.970-232_970-231delinsTC MANE Select NP_000268.1:n.970-232_970-231delinsTC
NM_001354304.2:c.970-232_970-231delinsTC NP_001341233.1:n.970-232_970-231delinsTC
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