Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.113449392_113449401delinsAGAGAGAGAG , CM000663.2:g.113449392_113449401delinsAGAGAGAGAG	GRCh38
NC_000001.10:g.113992014_113992023delinsAGAGAGAGAG , CM000663.1:g.113992014_113992023delinsAGAGAGAGAG	GRCh37
NC_000001.9:g.113793537_113793546delinsAGAGAGAGAG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307546.14:c.316+58043_316+58052delinsAGAGAGAGAG MANE Select	ENSP00000304604.9:n.316+58043_316+58052delinsAGAGAGAGAG
ENST00000307546.13:c.316+58043_316+58052delinsAGAGAGAGAG	ENSP00000304604.9:n.316+58043_316+58052delinsAGAGAGAGAG
ENST00000369611.4:c.316+58043_316+58052delinsAGAGAGAGAG	ENSP00000358624.4:n.316+58043_316+58052delinsAGAGAGAGAG
ENST00000369615.5:c.316+58043_316+58052delinsAGAGAGAGAG	ENSP00000358628.1:n.316+58043_316+58052delinsAGAGAGAGAG
ENST00000369617.8:c.316+58043_316+58052delinsAGAGAGAGAG	ENSP00000358630.4:n.316+58043_316+58052delinsAGAGAGAGAG
ENST00000486456.1:n.219+58043_219+58052delinsAGAGAGAGAG
NM_001142782.1:c.316+58043_316+58052delinsAGAGAGAGAG	NP_001136254.1:n.316+58043_316+58052delinsAGAGAGAGAG
NM_152900.2:c.316+58043_316+58052delinsAGAGAGAGAG	NP_690864.2:n.316+58043_316+58052delinsAGAGAGAGAG
XM_005270737.2:c.316+58043_316+58052delinsAGAGAGAGAG	XP_005270794.1:n.316+58043_316+58052delinsAGAGAGAGAG
XR_946601.1:n.876+58043_876+58052delinsAGAGAGAGAG
XM_005270737.3:c.316+58043_316+58052delinsAGAGAGAGAG	XP_005270794.1:n.316+58043_316+58052delinsAGAGAGAGAG
XM_011541208.2:c.-1941+58043_-1941+58052delinsAGAGAGAGAG	XP_011539510.1:n.-1941+58043_-1941+58052delinsAGAGAGAGAG
XM_017000974.1:c.316+58043_316+58052delinsAGAGAGAGAG	XP_016856463.1:n.316+58043_316+58052delinsAGAGAGAGAG
XR_001737106.1:n.876+58043_876+58052delinsAGAGAGAGAG
XR_946601.2:n.876+58043_876+58052delinsAGAGAGAGAG
NM_001142782.2:c.316+58043_316+58052delinsAGAGAGAGAG MANE Select	NP_001136254.1:n.316+58043_316+58052delinsAGAGAGAGAG
NM_152900.3:c.316+58043_316+58052delinsAGAGAGAGAG	NP_690864.2:n.316+58043_316+58052delinsAGAGAGAGAG