Canonical Allele Identifier: CA2211968484

Gene: ACSM5

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20438120_20438121delinsGC , CM000678.2:g.20438120_20438121delinsGC	GRCh38
NC_000016.9:g.20449442_20449443delinsGC , CM000678.1:g.20449442_20449443delinsGC	GRCh37
NC_000016.8:g.20356943_20356944delinsGC	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000331849.8:c.1536+753_1536+754delinsGC MANE Select	ENSP00000327916.4:n.1536+753_1536+754delinsGC
ENST00000577024.1:n.449+753_449+754delinsGC
NM_017888.2:c.1536+753_1536+754delinsGC	NP_060358.2:n.1536+753_1536+754delinsGC
XM_006721055.2:c.1536+753_1536+754delinsGC	XP_006721118.1:n.1536+753_1536+754delinsGC
XM_006721056.2:c.1536+753_1536+754delinsGC	XP_006721119.1:n.1536+753_1536+754delinsGC
NM_001324371.1:c.1536+753_1536+754delinsGC	NP_001311300.1:n.1536+753_1536+754delinsGC
NM_001324372.1:c.1536+753_1536+754delinsGC	NP_001311301.1:n.1536+753_1536+754delinsGC
NM_017888.3:c.1536+753_1536+754delinsGC MANE Select	NP_060358.2:n.1536+753_1536+754delinsGC
NM_001324371.2:c.1536+753_1536+754delinsGC	NP_001311300.1:n.1536+753_1536+754delinsGC
NM_001324372.2:c.1536+753_1536+754delinsGC	NP_001311301.1:n.1536+753_1536+754delinsGC