Canonical Allele Identifier: CA607156373
Gene: PAH HGNC NCBI

Linked Data

dbSNP Id: rs1592961028
gnomAD v2: 12-103259876-ATCCT-A
gnomAD v3: 12-102866098-ATCCT-A
gnomAD v4: 12-102866098-ATCCT-A
MyVariant Identifiers: chr12:g.103259877_103259880del (hg19) chr12:g.102866099_102866102del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102866099_102866102del , CM000674.2:g.102866099_102866102del GRCh38
NC_000012.11:g.103259877_103259880del , CM000674.1:g.103259877_103259880del GRCh37
NC_000012.10:g.101784007_101784010del NCBI36
NG_008690.1:g.56501_56504del
NG_008690.2:g.97309_97312del

Transcript Alleles

HGVS Amino-acid Change
ENST00000553106.6:c.509+494_509+497del MANE Select ENSP00000448059.1:n.509+494_509+497del
ENST00000307000.7:c.494+494_494+497del ENSP00000303500.2:n.494+494_494+497del
ENST00000549111.5:n.605+494_605+497del
ENST00000551988.5:n.531-10770_531-10767del
ENST00000553106.5:c.509+494_509+497del ENSP00000448059.1:n.509+494_509+497del
NM_000277.1:c.509+494_509+497del NP_000268.1:n.509+494_509+497del
XM_011538422.1:c.509+494_509+497del XP_011536724.1:n.509+494_509+497del
NM_000277.2:c.509+494_509+497del NP_000268.1:n.509+494_509+497del
NM_001354304.1:c.509+494_509+497del NP_001341233.1:n.509+494_509+497del
XM_017019370.2:c.509+494_509+497del XP_016874859.1:n.509+494_509+497del
NM_000277.3:c.509+494_509+497del MANE Select NP_000268.1:n.509+494_509+497del
NM_001354304.2:c.509+494_509+497del NP_001341233.1:n.509+494_509+497del
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