Canonical Allele Identifier: CA2620527048
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102840624-C-CAAGAAGACTCAT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840624_102840625insAAGAAGACTCAT , CM000674.2:g.102840624_102840625insAAGAAGACTCAT GRCh38
NC_000012.11:g.103234402_103234403insAAGAAGACTCAT , CM000674.1:g.103234402_103234403insAAGAAGACTCAT GRCh37
NC_000012.10:g.101758532_101758533insAAGAAGACTCAT NCBI36
NG_008690.1:g.81978_81979insATGAGTCTTCTT
NG_008690.2:g.122786_122787insATGAGTCTTCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200-110_1200-109insATGAGTCTTCTT MANE Select ENSP00000448059.1:n.1200-110_1200-109insATGAGTCTTCTT
ENST00000307000.7:c.1185-110_1185-109insATGAGTCTTCTT ENSP00000303500.2:n.1185-110_1185-109insATGAGTCTTCTT
ENST00000549247.6:n.959-110_959-109insATGAGTCTTCTT
ENST00000551114.2:n.862-110_862-109insATGAGTCTTCTT
ENST00000553106.5:c.1200-110_1200-109insATGAGTCTTCTT ENSP00000448059.1:n.1200-110_1200-109insATGAGTCTTCTT
ENST00000635477.1:c.304-110_304-109insATGAGTCTTCTT
ENST00000635528.1:n.715-110_715-109insATGAGTCTTCTT
NM_000277.1:c.1200-110_1200-109insATGAGTCTTCTT NP_000268.1:n.1200-110_1200-109insATGAGTCTTCTT
XM_011538422.1:c.1143-110_1143-109insATGAGTCTTCTT XP_011536724.1:n.1143-110_1143-109insATGAGTCTTCTT
NM_000277.2:c.1200-110_1200-109insATGAGTCTTCTT NP_000268.1:n.1200-110_1200-109insATGAGTCTTCTT
NM_001354304.1:c.1200-110_1200-109insATGAGTCTTCTT NP_001341233.1:n.1200-110_1200-109insATGAGTCTTCTT
NM_000277.3:c.1200-110_1200-109insATGAGTCTTCTT MANE Select NP_000268.1:n.1200-110_1200-109insATGAGTCTTCTT
NM_001354304.2:c.1200-110_1200-109insATGAGTCTTCTT NP_001341233.1:n.1200-110_1200-109insATGAGTCTTCTT
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