Canonical Allele Identifier: CA2059456556
Gene: PAH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102865668_102865669delinsCA , CM000674.2:g.102865668_102865669delinsCA GRCh38
NC_000012.11:g.103259446_103259447delinsCA , CM000674.1:g.103259446_103259447delinsCA GRCh37
NC_000012.10:g.101783576_101783577delinsCA NCBI36
NG_008690.1:g.56934_56935delinsTG
NG_008690.2:g.97742_97743delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+927_509+928delinsTG MANE Select ENSP00000448059.1:n.509+927_509+928delinsTG
ENST00000307000.7:c.494+927_494+928delinsTG ENSP00000303500.2:n.494+927_494+928delinsTG
ENST00000549111.5:n.605+927_605+928delinsTG
ENST00000551988.5:n.531-10337_531-10336delinsTG
ENST00000553106.5:c.509+927_509+928delinsTG ENSP00000448059.1:n.509+927_509+928delinsTG
NM_000277.1:c.509+927_509+928delinsTG NP_000268.1:n.509+927_509+928delinsTG
XM_011538422.1:c.509+927_509+928delinsTG XP_011536724.1:n.509+927_509+928delinsTG
NM_000277.2:c.509+927_509+928delinsTG NP_000268.1:n.509+927_509+928delinsTG
NM_001354304.1:c.509+927_509+928delinsTG NP_001341233.1:n.509+927_509+928delinsTG
XM_017019370.2:c.509+927_509+928delinsTG XP_016874859.1:n.509+927_509+928delinsTG
NM_000277.3:c.509+927_509+928delinsTG MANE Select NP_000268.1:n.509+927_509+928delinsTG
NM_001354304.2:c.509+927_509+928delinsTG NP_001341233.1:n.509+927_509+928delinsTG
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