Canonical Allele Identifier: CA2059443521
Community Standard Title: NM_000277.3(PAH):c.912+584_912+585insCTTTCTTT
Gene: PAH HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.102851103_102851104insAAGAAAGA , CM000674.2:g.102851103_102851104insAAGAAAGA GRCh38
NC_000012.11:g.103244881_103244882insAAGAAAGA , CM000674.1:g.103244881_103244882insAAGAAAGA GRCh37
NC_000012.10:g.101769011_101769012insAAGAAAGA NCBI36
NG_008690.1:g.71500_71501insCTTTCTTT
NG_008690.2:g.112308_112309insCTTTCTTT

Transcript Alleles

HGVS Amino-acid Change
NM_000277.3:c.912+584_912+585insCTTTCTTT MANE Select NP_000268.1:n.912+584_912+585insCTTTCTTT
ENST00000553106.6:c.912+584_912+585insCTTTCTTT MANE Select ENSP00000448059.1:n.912+584_912+585insCTTTCTTT
NM_000277.1:c.912+584_912+585insCTTTCTTT NP_000268.1:n.912+584_912+585insCTTTCTTT
NM_000277.2:c.912+584_912+585insCTTTCTTT NP_000268.1:n.912+584_912+585insCTTTCTTT
NM_001354304.1:c.912+584_912+585insCTTTCTTT NP_001341233.1:n.912+584_912+585insCTTTCTTT
NM_001354304.2:c.912+584_912+585insCTTTCTTT NP_001341233.1:n.912+584_912+585insCTTTCTTT
ENST00000307000.7:c.897+584_897+585insCTTTCTTT ENSP00000303500.2:n.897+584_897+585insCTTTCTTT
ENST00000549247.6:n.671+584_671+585insCTTTCTTT
ENST00000551114.2:n.574+584_574+585insCTTTCTTT
ENST00000553106.5:c.912+584_912+585insCTTTCTTT ENSP00000448059.1:n.912+584_912+585insCTTTCTTT
ENST00000635477.1:c.73+584_73+585insCTTTCTTT
XM_011538422.1:c.912+584_912+585insCTTTCTTT XP_011536724.1:n.912+584_912+585insCTTTCTTT
Search 100 bp 5'
Search 100 bp 3'