Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.3740262_3740263delinsAG , CM000678.2:g.3740262_3740263delinsAG	GRCh38
NC_000016.9:g.3790263_3790264delinsAG , CM000678.1:g.3790263_3790264delinsAG	GRCh37
NC_000016.8:g.3730264_3730265delinsAG	NCBI36
NG_009873.1:g.144858_144859delinsCT
NG_009873.2:g.145451_145452delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262367.10:c.4133+136_4133+137delinsCT MANE Select	ENSP00000262367.5:n.4133+136_4133+137delinsCT
ENST00000262367.9:c.4133+136_4133+137delinsCT	ENSP00000262367.5:n.4133+136_4133+137delinsCT
ENST00000382070.7:c.4019+136_4019+137delinsCT	ENSP00000371502.3:n.4019+136_4019+137delinsCT
ENST00000570939.2:c.2768+136_2768+137delinsCT	ENSP00000461002.2:n.2768+136_2768+137delinsCT
ENST00000573517.6:c.439+136_439+137delinsCT
ENST00000574740.1:n.215+136_215+137delinsCT
ENST00000576720.1:n.3070+136_3070+137delinsCT
NM_001079846.1:c.4019+136_4019+137delinsCT	NP_001073315.1:n.4019+136_4019+137delinsCT
NM_004380.2:c.4133+136_4133+137delinsCT	NP_004371.2:n.4133+136_4133+137delinsCT
XM_005255124.3:c.4088+136_4088+137delinsCT	XP_005255181.1:n.4088+136_4088+137delinsCT
XM_005255125.3:c.3716+136_3716+137delinsCT	XP_005255182.1:n.3716+136_3716+137delinsCT
XM_006720848.2:c.4133+136_4133+137delinsCT	XP_006720911.1:n.4133+136_4133+137delinsCT
XM_011522380.1:c.4079+136_4079+137delinsCT	XP_011520682.1:n.4079+136_4079+137delinsCT
XM_011522381.1:c.3380+136_3380+137delinsCT	XP_011520683.1:n.3380+136_3380+137delinsCT
XM_005255124.4:c.4088+136_4088+137delinsCT	XP_005255181.1:n.4088+136_4088+137delinsCT
XM_005255125.4:c.3716+136_3716+137delinsCT	XP_005255182.1:n.3716+136_3716+137delinsCT
XM_006720848.3:c.4133+136_4133+137delinsCT	XP_006720911.1:n.4133+136_4133+137delinsCT
XM_011522381.2:c.3380+136_3380+137delinsCT	XP_011520683.1:n.3380+136_3380+137delinsCT
XM_017022944.1:c.4127+136_4127+137delinsCT	XP_016878433.1:n.4127+136_4127+137delinsCT
NM_004380.3:c.4133+136_4133+137delinsCT MANE Select	NP_004371.2:n.4133+136_4133+137delinsCT