Canonical Allele Identifier: CA2212010254

Gene: ACSM2A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.20479462_20479483delinsAACCCTGCTCTACTATGTATTG , CM000678.2:g.20479462_20479483delinsAACCCTGCTCTACTATGTATTG	GRCh38
NC_000016.9:g.20490784_20490805delinsAACCCTGCTCTACTATGTATTG , CM000678.1:g.20490784_20490805delinsAACCCTGCTCTACTATGTATTG	GRCh37
NC_000016.8:g.20398285_20398306delinsAACCCTGCTCTACTATGTATTG	NCBI36
NG_054721.1:g.33002_33023delinsAACCCTGCTCTACTATGTATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573854.6:c.1281+785_1281+806delinsAACCCTGCTCTACTATGTATTG MANE Select	ENSP00000459451.1:n.1281+785_1281+806delinsAACCCTGCTCTACTATGT...
ENST00000219054.10:c.1281+785_1281+806delinsAACCCTGCTCTACTATGTATTG	ENSP00000219054.6:n.1281+785_1281+806delinsAACCCTGCTCTACTATGT...
ENST00000396104.2:c.1281+785_1281+806delinsAACCCTGCTCTACTATGTATTG	ENSP00000379411.2:n.1281+785_1281+806delinsAACCCTGCTCTACTATGT...
ENST00000417235.6:c.1044+785_1044+806delinsAACCCTGCTCTACTATGTATTG	ENSP00000392169.2:n.1044+785_1044+806delinsAACCCTGCTCTACTATGT...
ENST00000570698.5:n.1456+785_1456+806delinsAACCCTGCTCTACTATGTATTG
ENST00000572843.5:n.1476+785_1476+806delinsAACCCTGCTCTACTATGTATTG
ENST00000573854.5:c.1281+785_1281+806delinsAACCCTGCTCTACTATGTATTG	ENSP00000459451.1:n.1281+785_1281+806delinsAACCCTGCTCTACTATGT...
ENST00000575558.5:n.1210+785_1210+806delinsAACCCTGCTCTACTATGTATTG
ENST00000575690.5:c.1281+785_1281+806delinsAACCCTGCTCTACTATGTATTG	ENSP00000460349.1:n.1281+785_1281+806delinsAACCCTGCTCTACTATGT...
ENST00000576101.1:n.1033+785_1033+806delinsAACCCTGCTCTACTATGTATTG
NM_001010845.2:c.1281+785_1281+806delinsAACCCTGCTCTACTATGTATTG	NP_001010845.1:n.1281+785_1281+806delinsAACCCTGCTCTACTATGTATT...
NM_001308169.1:c.1044+785_1044+806delinsAACCCTGCTCTACTATGTATTG	NP_001295098.1:n.1044+785_1044+806delinsAACCCTGCTCTACTATGTATT...
NM_001308172.1:c.1281+785_1281+806delinsAACCCTGCTCTACTATGTATTG	NP_001295101.1:n.1281+785_1281+806delinsAACCCTGCTCTACTATGTATT...
NM_001308954.1:c.1281+785_1281+806delinsAACCCTGCTCTACTATGTATTG	NP_001295883.1:n.1281+785_1281+806delinsAACCCTGCTCTACTATGTATT...
XR_243259.2:n.2281+785_2281+806delinsAACCCTGCTCTACTATGTATTG
XM_017022923.1:c.1281+785_1281+806delinsAACCCTGCTCTACTATGTATTG	XP_016878412.1:n.1281+785_1281+806delinsAACCCTGCTCTACTATGTATT...
XM_017022924.2:c.*388_*409delinsAACCCTGCTCTACTATGTATTG	XP_016878413.1:n.*388_*409delinsAACCCTGCTCTACTATGTATTG
XM_017022925.1:c.1044+785_1044+806delinsAACCCTGCTCTACTATGTATTG	XP_016878414.1:n.1044+785_1044+806delinsAACCCTGCTCTACTATGTATT...
XM_017022926.2:c.594+785_594+806delinsAACCCTGCTCTACTATGTATTG	XP_016878415.1:n.594+785_594+806delinsAACCCTGCTCTACTATGTATTG
XR_001751834.2:n.2490+785_2490+806delinsAACCCTGCTCTACTATGTATTG
NM_001308172.2:c.1281+785_1281+806delinsAACCCTGCTCTACTATGTATTG MANE Select	NP_001295101.1:n.1281+785_1281+806delinsAACCCTGCTCTACTATGTATT...
NM_001308169.2:c.1044+785_1044+806delinsAACCCTGCTCTACTATGTATTG	NP_001295098.1:n.1044+785_1044+806delinsAACCCTGCTCTACTATGTATT...
NM_001308954.2:c.1281+785_1281+806delinsAACCCTGCTCTACTATGTATTG	NP_001295883.1:n.1281+785_1281+806delinsAACCCTGCTCTACTATGTATT...