Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074023_40074024delinsTA , CM000663.2:g.40074023_40074024delinsTA	GRCh38
NC_000001.10:g.40539695_40539696delinsTA , CM000663.1:g.40539695_40539696delinsTA	GRCh37
NC_000001.9:g.40312282_40312283delinsTA	NCBI36
NG_009192.1:g.28447_28448delinsTA , LRG_690:g.28447_28448delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.37_38delinsTA	ENSP00000394863.4:n.37_38delinsTA
ENST00000439754.6:c.37_38delinsTA	ENSP00000403207.2:n.37_38delinsTA
ENST00000449045.7:c.37_38delinsTA	ENSP00000392293.2:n.37_38delinsTA
ENST00000530076.6:c.37_38delinsTA	ENSP00000434007.1:n.37_38delinsTA
ENST00000530704.6:c.581_582delinsTA	ENSP00000431655.1:n.581_582delinsTA
ENST00000641083.1:c.1048_1049delinsTA
ENST00000641236.1:n.1195_1196delinsTA
ENST00000641319.1:c.168_169delinsTA	ENSP00000493128.1:n.168_169delinsTA
ENST00000641381.1:c.380_381delinsTA
ENST00000641471.1:c.37_38delinsTA	ENSP00000493146.1:n.37_38delinsTA
ENST00000641691.1:c.810_811delinsTA	ENSP00000492910.1:n.810_811delinsTA
ENST00000642050.2:c.37_38delinsTA MANE Select	ENSP00000493153.1:n.37_38delinsTA
ENST00000372775.2:n.355_356delinsTA
ENST00000433473.7:c.37_38delinsTA	ENSP00000394863.3:n.37_38delinsTA
ENST00000439754.5:c.571_572delinsTA	ENSP00000403207.1:n.571_572delinsTA
ENST00000449045.6:c.37_38delinsTA	ENSP00000392293.2:n.37_38delinsTA
ENST00000529905.5:c.37_38delinsTA	ENSP00000432053.1:n.37_38delinsTA
ENST00000530704.5:c.581_582delinsTA	ENSP00000431655.1:n.581_582delinsTA
NM_000310.3:c.37_38delinsTA , LRG_690t1:c.37_38delinsTA	NP_000301.1:n.37_38delinsTA
NM_001142604.1:c.37_38delinsTA	NP_001136076.1:n.37_38delinsTA
XM_005271008.1:c.37_38delinsTA	XP_005271065.1:n.37_38delinsTA
NM_001363695.1:c.37_38delinsTA	NP_001350624.1:n.37_38delinsTA
NM_000310.4:c.37_38delinsTA MANE Select	NP_000301.1:n.37_38delinsTA
NM_001142604.2:c.37_38delinsTA	NP_001136076.1:n.37_38delinsTA
NM_001363695.2:c.37_38delinsTA	NP_001350624.1:n.37_38delinsTA

HGVS	Amino-acid Change
ENST00000433473.8:c.37_38delinsTA	ENSP00000394863.4:n.37_38delinsTA
ENST00000439754.6:c.37_38delinsTA	ENSP00000403207.2:n.37_38delinsTA
ENST00000449045.7:c.37_38delinsTA	ENSP00000392293.2:n.37_38delinsTA
ENST00000530076.6:c.37_38delinsTA	ENSP00000434007.1:n.37_38delinsTA
ENST00000530704.6:c.581_582delinsTA	ENSP00000431655.1:n.581_582delinsTA
ENST00000641083.1:c.1048_1049delinsTA
ENST00000641236.1:n.1195_1196delinsTA
ENST00000641319.1:c.168_169delinsTA	ENSP00000493128.1:n.168_169delinsTA
ENST00000641381.1:c.380_381delinsTA
ENST00000641471.1:c.37_38delinsTA	ENSP00000493146.1:n.37_38delinsTA
ENST00000641691.1:c.810_811delinsTA	ENSP00000492910.1:n.810_811delinsTA
ENST00000642050.2:c.37_38delinsTA MANE Select	ENSP00000493153.1:n.37_38delinsTA
ENST00000372775.2:n.355_356delinsTA
ENST00000433473.7:c.37_38delinsTA	ENSP00000394863.3:n.37_38delinsTA
ENST00000439754.5:c.571_572delinsTA	ENSP00000403207.1:n.571_572delinsTA
ENST00000449045.6:c.37_38delinsTA	ENSP00000392293.2:n.37_38delinsTA
ENST00000529905.5:c.37_38delinsTA	ENSP00000432053.1:n.37_38delinsTA
ENST00000530704.5:c.581_582delinsTA	ENSP00000431655.1:n.581_582delinsTA
NM_000310.3:c.37_38delinsTA , LRG_690t1:c.37_38delinsTA	NP_000301.1:n.37_38delinsTA
NM_001142604.1:c.37_38delinsTA	NP_001136076.1:n.37_38delinsTA
XM_005271008.1:c.37_38delinsTA	XP_005271065.1:n.37_38delinsTA
NM_001363695.1:c.37_38delinsTA	NP_001350624.1:n.37_38delinsTA
NM_000310.4:c.37_38delinsTA MANE Select	NP_000301.1:n.37_38delinsTA
NM_001142604.2:c.37_38delinsTA	NP_001136076.1:n.37_38delinsTA
NM_001363695.2:c.37_38delinsTA	NP_001350624.1:n.37_38delinsTA