Canonical Allele Identifier: CA2212010422

Gene: ACSM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479747_20479753delinsACAGACT , CM000678.2:g.20479747_20479753delinsACAGACT	GRCh38
NC_000016.9:g.20491069_20491075delinsACAGACT , CM000678.1:g.20491069_20491075delinsACAGACT	GRCh37
NC_000016.8:g.20398570_20398576delinsACAGACT	NCBI36
NG_054721.1:g.33287_33293delinsACAGACT

Transcript Alleles

HGVS	Amino-acid change
ENST00000573854.6:c.1282-826_1282-820delinsACAGACT MANE Select	ENSP00000459451.1:n.1282-826_1282-820deli...
ENST00000219054.10:c.1282-826_1282-820delinsACAGACT	ENSP00000219054.6:n.1282-826_1282-820deli...
ENST00000396104.2:c.1282-826_1282-820delinsACAGACT	ENSP00000379411.2:n.1282-826_1282-820deli...
ENST00000417235.6:c.1045-826_1045-820delinsACAGACT	ENSP00000392169.2:n.1045-826_1045-820deli...
ENST00000570698.5:n.1457-826_1457-820delinsACAGACT
ENST00000572843.5:n.1477-826_1477-820delinsACAGACT
ENST00000573854.5:c.1282-826_1282-820delinsACAGACT	ENSP00000459451.1:n.1282-826_1282-820deli...
ENST00000575558.5:n.1211-826_1211-820delinsACAGACT
ENST00000575690.5:c.1282-826_1282-820delinsACAGACT	ENSP00000460349.1:n.1282-826_1282-820deli...
ENST00000576101.1:n.1034-826_1034-820delinsACAGACT
NM_001010845.2:c.1282-826_1282-820delinsACAGACT	NP_001010845.1:n.1282-826_1282-820delinsA...
NM_001308169.1:c.1045-826_1045-820delinsACAGACT	NP_001295098.1:n.1045-826_1045-820delinsA...
NM_001308172.1:c.1282-826_1282-820delinsACAGACT	NP_001295101.1:n.1282-826_1282-820delinsA...
NM_001308954.1:c.1282-826_1282-820delinsACAGACT	NP_001295883.1:n.1282-826_1282-820delinsA...
XR_243259.2:n.2282-826_2282-820delinsACAGACT
XM_017022923.1:c.1282-826_1282-820delinsACAGACT	XP_016878412.1:n.1282-826_1282-820delinsA...
XM_017022924.2:c.*673_*679delinsACAGACT	XP_016878413.1:n.*673_*679delinsACAGACT
XM_017022925.1:c.1045-826_1045-820delinsACAGACT	XP_016878414.1:n.1045-826_1045-820delinsA...
XM_017022926.2:c.595-826_595-820delinsACAGACT	XP_016878415.1:n.595-826_595-820delinsACA...
XR_001751834.2:n.2491-826_2491-820delinsACAGACT
NM_001308172.2:c.1282-826_1282-820delinsACAGACT MANE Select	NP_001295101.1:n.1282-826_1282-820delinsA...
NM_001308169.2:c.1045-826_1045-820delinsACAGACT	NP_001295098.1:n.1045-826_1045-820delinsA...
NM_001308954.2:c.1282-826_1282-820delinsACAGACT	NP_001295883.1:n.1282-826_1282-820delinsA...