Canonical Allele Identifier: CA2620527045
Gene: PAH HGNC NCBI

Linked Data

gnomAD v4: 12-102840620-C-CACACAGAGGCT
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102840620_102840621insACACAGAGGCT , CM000674.2:g.102840620_102840621insACACAGAGGCT GRCh38
NC_000012.11:g.103234398_103234399insACACAGAGGCT , CM000674.1:g.103234398_103234399insACACAGAGGCT GRCh37
NC_000012.10:g.101758528_101758529insACACAGAGGCT NCBI36
NG_008690.1:g.81982_81983insAGCCTCTGTGT
NG_008690.2:g.122790_122791insAGCCTCTGTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.1200-106_1200-105insAGCCTCTGTGT MANE Select ENSP00000448059.1:n.1200-106_1200-105insAGCCTCTGTGT
ENST00000307000.7:c.1185-106_1185-105insAGCCTCTGTGT ENSP00000303500.2:n.1185-106_1185-105insAGCCTCTGTGT
ENST00000549247.6:n.959-106_959-105insAGCCTCTGTGT
ENST00000551114.2:n.862-106_862-105insAGCCTCTGTGT
ENST00000553106.5:c.1200-106_1200-105insAGCCTCTGTGT ENSP00000448059.1:n.1200-106_1200-105insAGCCTCTGTGT
ENST00000635477.1:c.304-106_304-105insAGCCTCTGTGT
ENST00000635528.1:n.715-106_715-105insAGCCTCTGTGT
NM_000277.1:c.1200-106_1200-105insAGCCTCTGTGT NP_000268.1:n.1200-106_1200-105insAGCCTCTGTGT
XM_011538422.1:c.1143-106_1143-105insAGCCTCTGTGT XP_011536724.1:n.1143-106_1143-105insAGCCTCTGTGT
NM_000277.2:c.1200-106_1200-105insAGCCTCTGTGT NP_000268.1:n.1200-106_1200-105insAGCCTCTGTGT
NM_001354304.1:c.1200-106_1200-105insAGCCTCTGTGT NP_001341233.1:n.1200-106_1200-105insAGCCTCTGTGT
NM_000277.3:c.1200-106_1200-105insAGCCTCTGTGT MANE Select NP_000268.1:n.1200-106_1200-105insAGCCTCTGTGT
NM_001354304.2:c.1200-106_1200-105insAGCCTCTGTGT NP_001341233.1:n.1200-106_1200-105insAGCCTCTGTGT
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