Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148742148_148742152delinsTGAAA , CM000665.2:g.148742148_148742152delinsTGAAA	GRCh38
NC_000003.11:g.148459935_148459939delinsTGAAA , CM000665.1:g.148459935_148459939delinsTGAAA	GRCh37
NC_000003.10:g.149942625_149942629delinsTGAAA	NCBI36
NG_008468.1:g.49278_49282delinsTGAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000349243.8:c.33_37delinsTGAAA MANE Select	ENSP00000273430.3:n.33_37delinsTGAAA
ENST00000402260.2:c.33_37delinsTGAAA	ENSP00000385641.3:n.33_37delinsTGAAA
ENST00000418473.7:c.33_37delinsTGAAA	ENSP00000398832.4:n.33_37delinsTGAAA
ENST00000349243.7:c.33_37delinsTGAAA	ENSP00000273430.3:n.33_37delinsTGAAA
ENST00000402260.1:c.33_37delinsTGAAA	ENSP00000385641.2:n.33_37delinsTGAAA
ENST00000404754.2:c.33_37delinsTGAAA	ENSP00000385612.2:n.33_37delinsTGAAA
ENST00000418473.6:c.1218_1222delinsTGAAA	ENSP00000398832.3:n.1218_1222delinsTGAAA
ENST00000461609.1:c.33_37delinsTGAAA	ENSP00000418851.1:n.33_37delinsTGAAA
ENST00000474935.5:c.33_37delinsTGAAA	ENSP00000418084.1:n.33_37delinsTGAAA
ENST00000475347.5:c.33_37delinsTGAAA	ENSP00000419783.1:n.33_37delinsTGAAA
ENST00000497524.5:c.33_37delinsTGAAA	ENSP00000419422.1:n.33_37delinsTGAAA
NM_000685.4:c.33_37delinsTGAAA	NP_000676.1:n.33_37delinsTGAAA
NM_004835.4:c.33_37delinsTGAAA	NP_004826.5:n.33_37delinsTGAAA
NM_009585.3:c.33_37delinsTGAAA	NP_033611.1:n.33_37delinsTGAAA
NM_031850.3:c.33_37delinsTGAAA	NP_114038.4:n.33_37delinsTGAAA
NM_032049.3:c.33_37delinsTGAAA	NP_114438.2:n.33_37delinsTGAAA
NM_000685.5:c.33_37delinsTGAAA MANE Select	NP_000676.1:n.33_37delinsTGAAA
NM_001382736.1:c.33_37delinsTGAAA	NP_001369665.1:n.33_37delinsTGAAA
NM_001382737.1:c.33_37delinsTGAAA	NP_001369666.1:n.33_37delinsTGAAA
NM_004835.5:c.33_37delinsTGAAA	NP_004826.6:n.33_37delinsTGAAA
NM_009585.4:c.33_37delinsTGAAA	NP_033611.1:n.33_37delinsTGAAA
NM_031850.4:c.33_37delinsTGAAA	NP_114038.5:n.33_37delinsTGAAA
NM_032049.4:c.33_37delinsTGAAA	NP_114438.3:n.33_37delinsTGAAA

HGVS	Amino-acid Change
ENST00000349243.8:c.33_37delinsTGAAA MANE Select	ENSP00000273430.3:n.33_37delinsTGAAA
ENST00000402260.2:c.33_37delinsTGAAA	ENSP00000385641.3:n.33_37delinsTGAAA
ENST00000418473.7:c.33_37delinsTGAAA	ENSP00000398832.4:n.33_37delinsTGAAA
ENST00000349243.7:c.33_37delinsTGAAA	ENSP00000273430.3:n.33_37delinsTGAAA
ENST00000402260.1:c.33_37delinsTGAAA	ENSP00000385641.2:n.33_37delinsTGAAA
ENST00000404754.2:c.33_37delinsTGAAA	ENSP00000385612.2:n.33_37delinsTGAAA
ENST00000418473.6:c.1218_1222delinsTGAAA	ENSP00000398832.3:n.1218_1222delinsTGAAA
ENST00000461609.1:c.33_37delinsTGAAA	ENSP00000418851.1:n.33_37delinsTGAAA
ENST00000474935.5:c.33_37delinsTGAAA	ENSP00000418084.1:n.33_37delinsTGAAA
ENST00000475347.5:c.33_37delinsTGAAA	ENSP00000419783.1:n.33_37delinsTGAAA
ENST00000497524.5:c.33_37delinsTGAAA	ENSP00000419422.1:n.33_37delinsTGAAA
NM_000685.4:c.33_37delinsTGAAA	NP_000676.1:n.33_37delinsTGAAA
NM_004835.4:c.33_37delinsTGAAA	NP_004826.5:n.33_37delinsTGAAA
NM_009585.3:c.33_37delinsTGAAA	NP_033611.1:n.33_37delinsTGAAA
NM_031850.3:c.33_37delinsTGAAA	NP_114038.4:n.33_37delinsTGAAA
NM_032049.3:c.33_37delinsTGAAA	NP_114438.2:n.33_37delinsTGAAA
NM_000685.5:c.33_37delinsTGAAA MANE Select	NP_000676.1:n.33_37delinsTGAAA
NM_001382736.1:c.33_37delinsTGAAA	NP_001369665.1:n.33_37delinsTGAAA
NM_001382737.1:c.33_37delinsTGAAA	NP_001369666.1:n.33_37delinsTGAAA
NM_004835.5:c.33_37delinsTGAAA	NP_004826.6:n.33_37delinsTGAAA
NM_009585.4:c.33_37delinsTGAAA	NP_033611.1:n.33_37delinsTGAAA
NM_031850.4:c.33_37delinsTGAAA	NP_114038.5:n.33_37delinsTGAAA
NM_032049.4:c.33_37delinsTGAAA	NP_114438.3:n.33_37delinsTGAAA