Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.116772226_116772227insACTTCC , CM000669.2:g.116772226_116772227insACTTCC	GRCh38
NC_000007.13:g.116412280_116412281insACTTCC , CM000669.1:g.116412280_116412281insACTTCC	GRCh37
NC_000007.12:g.116199516_116199517insACTTCC	NCBI36
NG_008996.1:g.104822_104823insACTTCC , LRG_662:g.104822_104823insACTTCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000436117.3:c.633+237_633+238insACTTCC	ENSP00000410980.2:n.633+237_633+238insACTTCC
ENST00000318493.11:c.3082+237_3082+238insACTTCC	ENSP00000317272.6:n.3082+237_3082+238insACTTCC
ENST00000397752.8:c.3028+237_3028+238insACTTCC MANE Select	ENSP00000380860.3:n.3028+237_3028+238insACTTCC
ENST00000318493.10:c.3082+237_3082+238insACTTCC	ENSP00000317272.6:n.3082+237_3082+238insACTTCC
ENST00000397752.7:c.3028+237_3028+238insACTTCC	ENSP00000380860.3:n.3028+237_3028+238insACTTCC
ENST00000454623.1:c.283+572_283+573insACTTCC	ENSP00000398140.1:n.283+572_283+573insACTTCC
NM_000245.2:c.3028+237_3028+238insACTTCC	NP_000236.2:n.3028+237_3028+238insACTTCC
NM_001127500.1:c.3082+237_3082+238insACTTCC , LRG_662t1:c.3082+237_3082+238insACTTCC	NP_001120972.1:n.3082+237_3082+238insACTTCC
XM_006715990.2:c.1738+237_1738+238insACTTCC	XP_006716053.1:n.1738+237_1738+238insACTTCC
XM_006715991.2:c.1738+237_1738+238insACTTCC	XP_006716054.1:n.1738+237_1738+238insACTTCC
XM_011516223.1:c.3085+237_3085+238insACTTCC	XP_011514525.1:n.3085+237_3085+238insACTTCC
NM_000245.3:c.3028+237_3028+238insACTTCC	NP_000236.2:n.3028+237_3028+238insACTTCC
NM_001127500.2:c.3082+237_3082+238insACTTCC	NP_001120972.1:n.3082+237_3082+238insACTTCC
NM_001324402.1:c.1738+237_1738+238insACTTCC	NP_001311331.1:n.1738+237_1738+238insACTTCC
XR_001744772.1:n.3159+237_3159+238insACTTCC
NM_001127500.3:c.3082+237_3082+238insACTTCC	NP_001120972.1:n.3082+237_3082+238insACTTCC
NM_000245.4:c.3028+237_3028+238insACTTCC MANE Select	NP_000236.2:n.3028+237_3028+238insACTTCC
NM_001324402.2:c.1738+237_1738+238insACTTCC	NP_001311331.1:n.1738+237_1738+238insACTTCC