Canonical Allele Identifier: CA2620507291

Gene: PAH

Linked Data

• gnomAD v4: 12-102877429-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102877435del , CM000674.2:g.102877435del	GRCh38
NC_000012.11:g.103271213del , CM000674.1:g.103271213del	GRCh37
NC_000012.10:g.101795343del	NCBI36
NG_008690.1:g.45173del
NG_008690.2:g.85981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.441+32del MANE Select	ENSP00000448059.1:n.441+32del
ENST00000307000.7:c.426+32del	ENSP00000303500.2:n.426+32del
ENST00000549111.5:n.537+32del
ENST00000550978.6:c.457del
ENST00000551988.5:n.530+32del
ENST00000553106.5:c.441+32del	ENSP00000448059.1:n.441+32del
NM_000277.1:c.441+32del	NP_000268.1:n.441+32del
XM_011538422.1:c.441+32del	XP_011536724.1:n.441+32del
NM_000277.2:c.441+32del	NP_000268.1:n.441+32del
NM_001354304.1:c.441+32del	NP_001341233.1:n.441+32del
XM_017019370.2:c.441+32del	XP_016874859.1:n.441+32del
NM_000277.3:c.441+32del MANE Select	NP_000268.1:n.441+32del
NM_001354304.2:c.441+32del	NP_001341233.1:n.441+32del