Canonical Allele Identifier: CA2059476215
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102917200_102917201delinsGT , CM000674.2:g.102917200_102917201delinsGT GRCh38
NC_000012.11:g.103310978_103310979delinsGT , CM000674.1:g.103310978_103310979delinsGT GRCh37
NC_000012.10:g.101835108_101835109delinsGT NCBI36
NG_008690.1:g.5402_5403delinsAC
NG_008690.2:g.46210_46211delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.-71_-70delinsAC MANE Select ENSP00000448059.1:n.-71_-70delinsAC
ENST00000307000.7:c.-218_-217delinsAC ENSP00000303500.2:n.-218_-217delinsAC
ENST00000546708.5:n.517_518delinsAC
ENST00000546844.1:c.-71_-70delinsAC ENSP00000446658.1:n.-71_-70delinsAC
ENST00000547319.1:n.241_242delinsAC
ENST00000549111.5:n.26_27delinsAC
ENST00000551337.5:c.-71_-70delinsAC ENSP00000447620.1:n.-71_-70delinsAC
ENST00000551988.5:n.19_20delinsAC
ENST00000553106.5:c.-71_-70delinsAC ENSP00000448059.1:n.-71_-70delinsAC
ENST00000635500.1:n.29-4303_29-4302delinsAC
NM_000277.1:c.-71_-70delinsAC NP_000268.1:n.-71_-70delinsAC
XM_011538422.1:c.-71_-70delinsAC XP_011536724.1:n.-71_-70delinsAC
NM_000277.2:c.-71_-70delinsAC NP_000268.1:n.-71_-70delinsAC
NM_001354304.1:c.-71_-70delinsAC NP_001341233.1:n.-71_-70delinsAC
XM_017019370.2:c.-71_-70delinsAC XP_016874859.1:n.-71_-70delinsAC
NM_000277.3:c.-71_-70delinsAC MANE Select NP_000268.1:n.-71_-70delinsAC
NM_001354304.2:c.-71_-70delinsAC NP_001341233.1:n.-71_-70delinsAC
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