Canonical Allele Identifier: CA246326013

Gene: PGAM5

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.132715095_132715096insCTC , CM000674.2:g.132715095_132715096insCTC	GRCh38
NC_000012.11:g.133291681_133291682insCTC , CM000674.1:g.133291681_133291682insCTC	GRCh37
NC_000012.10:g.131801754_131801755insCTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001170543.2:c.370+59_370+60insCTC MANE Select	NP_001164014.1:n.370+59_370+60insCTC
ENST00000498926.7:c.370+59_370+60insCTC MANE Select	ENSP00000438465.1:n.370+59_370+60insCTC
NM_001170543.1:c.370+59_370+60insCTC	NP_001164014.1:n.370+59_370+60insCTC
NM_001170544.1:c.370+59_370+60insCTC	NP_001164015.1:n.370+59_370+60insCTC
NM_001170544.2:c.370+59_370+60insCTC	NP_001164015.1:n.370+59_370+60insCTC
NM_138575.3:c.370+59_370+60insCTC	NP_612642.2:n.370+59_370+60insCTC
NM_138575.4:c.370+59_370+60insCTC	NP_612642.2:n.370+59_370+60insCTC
ENST00000317555.6:c.370+59_370+60insCTC	ENSP00000321503.2:n.370+59_370+60insCTC
ENST00000454808.2:c.-78+59_-78+60insCTC	ENSP00000409537.2:n.-78+59_-78+60insCTC
ENST00000498926.6:c.370+59_370+60insCTC	ENSP00000438465.1:n.370+59_370+60insCTC
ENST00000543955.5:c.-78+59_-78+60insCTC	ENSP00000440372.1:n.-78+59_-78+60insCTC
ENST00000704860.1:c.370+59_370+60insCTC	ENSP00000516057.1:n.370+59_370+60insCTC