Canonical Allele Identifier: CA2211968493

Gene: ACSM5

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20438132_20438134delinsGAA , CM000678.2:g.20438132_20438134delinsGAA	GRCh38
NC_000016.9:g.20449454_20449456delinsGAA , CM000678.1:g.20449454_20449456delinsGAA	GRCh37
NC_000016.8:g.20356955_20356957delinsGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331849.8:c.1536+765_1536+767delinsGAA MANE Select	ENSP00000327916.4:n.1536+765_1536+767delinsGAA
ENST00000577024.1:n.449+765_449+767delinsGAA
NM_017888.2:c.1536+765_1536+767delinsGAA	NP_060358.2:n.1536+765_1536+767delinsGAA
XM_006721055.2:c.1536+765_1536+767delinsGAA	XP_006721118.1:n.1536+765_1536+767delinsGAA
XM_006721056.2:c.1536+765_1536+767delinsGAA	XP_006721119.1:n.1536+765_1536+767delinsGAA
NM_001324371.1:c.1536+765_1536+767delinsGAA	NP_001311300.1:n.1536+765_1536+767delinsGAA
NM_001324372.1:c.1536+765_1536+767delinsGAA	NP_001311301.1:n.1536+765_1536+767delinsGAA
NM_017888.3:c.1536+765_1536+767delinsGAA MANE Select	NP_060358.2:n.1536+765_1536+767delinsGAA
NM_001324371.2:c.1536+765_1536+767delinsGAA	NP_001311300.1:n.1536+765_1536+767delinsGAA
NM_001324372.2:c.1536+765_1536+767delinsGAA	NP_001311301.1:n.1536+765_1536+767delinsGAA