Canonical Allele Identifier: CA1490506330

Gene: AFG2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122947347_122947352delinsAATGCT , CM000666.2:g.122947347_122947352delinsAATGCT	GRCh38
NC_000004.11:g.123868502_123868507delinsAATGCT , CM000666.1:g.123868502_123868507delinsAATGCT	GRCh37
NC_000004.10:g.124087952_124087957delinsAATGCT	NCBI36
NG_051570.1:g.29278_29283delinsAATGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.1573_1578delinsAATGCT MANE Select	ENSP00000274008.3:p.Asn525=
ENST00000674886.1:n.1635_1640delinsAATGCT
ENST00000675612.1:c.1570_1575delinsAATGCT	ENSP00000502453.1:p.Asn524=
ENST00000274008.4:c.1573_1578delinsAATGCT	ENSP00000274008.3:p.Asn525=
ENST00000422835.2:n.1615_1620delinsAATGCT
NM_145207.2:c.1573_1578delinsAATGCT	NP_660208.2:p.Asn525=
XM_005262783.3:c.1570_1575delinsAATGCT	XP_005262840.1:p.Asn524=
XM_011531678.1:c.1570_1575delinsAATGCT	XP_011529980.1:p.Asn524=
XM_011531679.1:c.1573_1578delinsAATGCT	XP_011529981.1:p.Asn525=
NM_001317799.1:c.1570_1575delinsAATGCT	NP_001304728.1:p.Asn524=
NM_001345856.1:c.1570_1575delinsAATGCT	NP_001332785.1:p.Asn524=
XM_011531678.2:c.1570_1575delinsAATGCT	XP_011529980.1:p.Asn524=
XM_011531679.3:c.1573_1578delinsAATGCT	XP_011529981.1:p.Asn525=
XM_017007825.1:c.1573_1578delinsAATGCT	XP_016863314.1:p.Asn525=
XM_017007826.1:c.1573_1578delinsAATGCT	XP_016863315.1:p.Asn525=
XM_017007827.2:c.1573_1578delinsAATGCT	XP_016863316.1:p.Asn525=
XM_017007828.1:c.1351_1356delinsAATGCT	XP_016863317.1:p.Asn451=
XM_017007829.1:c.1117_1122delinsAATGCT	XP_016863318.1:p.Asn373=
XM_017007830.1:c.1573_1578delinsAATGCT	XP_016863319.1:p.Asn525=
XR_001741151.1:n.1643_1648delinsAATGCT
NM_145207.3:c.1573_1578delinsAATGCT MANE Select	NP_660208.2:p.Asn525=
NM_001317799.2:c.1570_1575delinsAATGCT	NP_001304728.1:p.Asn524=
NM_001345856.2:c.1570_1575delinsAATGCT	NP_001332785.1:p.Asn524=