Canonical Allele Identifier: CA2211968593

Gene: ACSM5

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20438355_20438358delinsATTC , CM000678.2:g.20438355_20438358delinsATTC	GRCh38
NC_000016.9:g.20449677_20449680delinsATTC , CM000678.1:g.20449677_20449680delinsATTC	GRCh37
NC_000016.8:g.20357178_20357181delinsATTC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331849.8:c.1536+988_1536+991delinsATTC MANE Select	ENSP00000327916.4:n.1536+988_1536+991delinsATTC
ENST00000577024.1:n.449+988_449+991delinsATTC
NM_017888.2:c.1536+988_1536+991delinsATTC	NP_060358.2:n.1536+988_1536+991delinsATTC
XM_006721055.2:c.1536+988_1536+991delinsATTC	XP_006721118.1:n.1536+988_1536+991delinsATTC
XM_006721056.2:c.1536+988_1536+991delinsATTC	XP_006721119.1:n.1536+988_1536+991delinsATTC
NM_001324371.1:c.1536+988_1536+991delinsATTC	NP_001311300.1:n.1536+988_1536+991delinsATTC
NM_001324372.1:c.1536+988_1536+991delinsATTC	NP_001311301.1:n.1536+988_1536+991delinsATTC
NM_017888.3:c.1536+988_1536+991delinsATTC MANE Select	NP_060358.2:n.1536+988_1536+991delinsATTC
NM_001324371.2:c.1536+988_1536+991delinsATTC	NP_001311300.1:n.1536+988_1536+991delinsATTC
NM_001324372.2:c.1536+988_1536+991delinsATTC	NP_001311301.1:n.1536+988_1536+991delinsATTC