Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740275_3740276delinsAC , CM000678.2:g.3740275_3740276delinsAC	GRCh38
NC_000016.9:g.3790276_3790277delinsAC , CM000678.1:g.3790276_3790277delinsAC	GRCh37
NC_000016.8:g.3730277_3730278delinsAC	NCBI36
NG_009873.1:g.144845_144846delinsGT
NG_009873.2:g.145438_145439delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133+123_4133+124delinsGT MANE Select	ENSP00000262367.5:n.4133+123_4133+124delinsGT
ENST00000262367.9:c.4133+123_4133+124delinsGT	ENSP00000262367.5:n.4133+123_4133+124delinsGT
ENST00000382070.7:c.4019+123_4019+124delinsGT	ENSP00000371502.3:n.4019+123_4019+124delinsGT
ENST00000570939.2:c.2768+123_2768+124delinsGT	ENSP00000461002.2:n.2768+123_2768+124delinsGT
ENST00000573517.6:c.439+123_439+124delinsGT
ENST00000574740.1:n.215+123_215+124delinsGT
ENST00000576720.1:n.3070+123_3070+124delinsGT
NM_001079846.1:c.4019+123_4019+124delinsGT	NP_001073315.1:n.4019+123_4019+124delinsGT
NM_004380.2:c.4133+123_4133+124delinsGT	NP_004371.2:n.4133+123_4133+124delinsGT
XM_005255124.3:c.4088+123_4088+124delinsGT	XP_005255181.1:n.4088+123_4088+124delinsGT
XM_005255125.3:c.3716+123_3716+124delinsGT	XP_005255182.1:n.3716+123_3716+124delinsGT
XM_006720848.2:c.4133+123_4133+124delinsGT	XP_006720911.1:n.4133+123_4133+124delinsGT
XM_011522380.1:c.4079+123_4079+124delinsGT	XP_011520682.1:n.4079+123_4079+124delinsGT
XM_011522381.1:c.3380+123_3380+124delinsGT	XP_011520683.1:n.3380+123_3380+124delinsGT
XM_005255124.4:c.4088+123_4088+124delinsGT	XP_005255181.1:n.4088+123_4088+124delinsGT
XM_005255125.4:c.3716+123_3716+124delinsGT	XP_005255182.1:n.3716+123_3716+124delinsGT
XM_006720848.3:c.4133+123_4133+124delinsGT	XP_006720911.1:n.4133+123_4133+124delinsGT
XM_011522381.2:c.3380+123_3380+124delinsGT	XP_011520683.1:n.3380+123_3380+124delinsGT
XM_017022944.1:c.4127+123_4127+124delinsGT	XP_016878433.1:n.4127+123_4127+124delinsGT
NM_004380.3:c.4133+123_4133+124delinsGT MANE Select	NP_004371.2:n.4133+123_4133+124delinsGT