Canonical Allele Identifier: CA1414369298

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.158647090_158647091delinsAC , CM000665.2:g.158647090_158647091delinsAC GRCh38
NC_000003.11:g.158364879_158364880delinsAC , CM000665.1:g.158364879_158364880delinsAC GRCh37
NC_000003.10:g.159847573_159847574delinsAC NCBI36
NG_008441.1:g.7563_7564delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000486715.6:c.572+143_572+144delinsAC (GFM1) MANE Select ENSP00000419038.1:n.572+143_572+144delinsAC
ENST00000264263.9:c.572+143_572+144delinsAC (GFM1) ENSP00000264263.5:n.572+143_572+144delinsAC
ENST00000478251.1:n.60+143_60+144delinsAC (GFM1)
ENST00000478254.5:c.572+143_572+144delinsAC (GFM1) ENSP00000417225.1:n.572+143_572+144delinsAC
ENST00000478576.5:c.572+143_572+144delinsAC (GFM1) ENSP00000418755.1:n.572+143_572+144delinsAC
ENST00000482640.5:c.362-882_362-881delinsGT (LXN)
ENST00000486715.5:c.572+143_572+144delinsAC (GFM1) ENSP00000419038.1:n.572+143_572+144delinsAC
NM_001308164.1:c.572+143_572+144delinsAC (GFM1) NP_001295093.1:n.572+143_572+144delinsAC
NM_001308166.1:c.572+143_572+144delinsAC (GFM1) NP_001295095.1:n.572+143_572+144delinsAC
NM_024996.5:c.572+143_572+144delinsAC (GFM1) NP_079272.4:n.572+143_572+144delinsAC
XM_006713795.1:c.572+143_572+144delinsAC (GFM1) XP_006713858.1:n.572+143_572+144delinsAC
XM_006713795.2:c.572+143_572+144delinsAC (GFM1) XP_006713858.1:n.572+143_572+144delinsAC
NM_001374355.1:c.572+143_572+144delinsAC (GFM1) NP_001361284.1:n.572+143_572+144delinsAC
NM_001374356.1:c.572+143_572+144delinsAC (GFM1) NP_001361285.1:n.572+143_572+144delinsAC
NM_001374357.1:c.347+143_347+144delinsAC (GFM1) NP_001361286.1:n.347+143_347+144delinsAC
NM_001374358.1:c.234+1309_234+1310delinsAC (GFM1) NP_001361287.1:n.234+1309_234+1310delinsAC
NM_001374359.1:c.5+1309_5+1310delinsAC (GFM1) NP_001361288.1:n.5+1309_5+1310delinsAC
NM_001374360.1:c.5+1309_5+1310delinsAC (GFM1) NP_001361289.1:n.5+1309_5+1310delinsAC
NM_001374361.1:c.5+1309_5+1310delinsAC (GFM1) NP_001361290.1:n.5+1309_5+1310delinsAC
NM_024996.7:c.572+143_572+144delinsAC (GFM1) MANE Select NP_079272.4:n.572+143_572+144delinsAC
NR_164499.1:n.680+143_680+144delinsAC (GFM1)
NR_164500.1:n.680+143_680+144delinsAC (GFM1)
NR_164501.1:n.342+1309_342+1310delinsAC (GFM1)
NR_164502.1:n.680+143_680+144delinsAC (GFM1)
NM_001308164.2:c.572+143_572+144delinsAC (GFM1) NP_001295093.1:n.572+143_572+144delinsAC
NM_001308166.2:c.572+143_572+144delinsAC (GFM1) NP_001295095.1:n.572+143_572+144delinsAC