Canonical Allele Identifier: CA2620514238

Gene: PAH

Linked Data

• gnomAD v4: 12-102852701-TCTAGACA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852702_102852708del , CM000674.2:g.102852702_102852708del	GRCh38
NC_000012.11:g.103246480_103246486del , CM000674.1:g.103246480_103246486del	GRCh37
NC_000012.10:g.101770610_101770616del	NCBI36
NG_008690.1:g.69895_69901del
NG_008690.2:g.110703_110709del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.842+107_842+113del MANE Select	ENSP00000448059.1:n.842+107_842+113del
ENST00000307000.7:c.827+107_827+113del	ENSP00000303500.2:n.827+107_827+113del
ENST00000549247.6:n.601+107_601+113del
ENST00000553106.5:c.842+107_842+113del	ENSP00000448059.1:n.842+107_842+113del
ENST00000635477.1:c.3+107_3+113del
NM_000277.1:c.842+107_842+113del	NP_000268.1:n.842+107_842+113del
XM_011538422.1:c.842+107_842+113del	XP_011536724.1:n.842+107_842+113del
NM_000277.2:c.842+107_842+113del	NP_000268.1:n.842+107_842+113del
NM_001354304.1:c.842+107_842+113del	NP_001341233.1:n.842+107_842+113del
NM_000277.3:c.842+107_842+113del MANE Select	NP_000268.1:n.842+107_842+113del
NM_001354304.2:c.842+107_842+113del	NP_001341233.1:n.842+107_842+113del