Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.210608561_210608562del , CM000664.2:g.210608561_210608562del	GRCh38
NC_000002.11:g.211473285_211473286del , CM000664.1:g.211473285_211473286del	GRCh37
NC_000002.10:g.211181530_211181531del	NCBI36
NG_008285.1:g.135877_135878del , LRG_336:g.135877_135878del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233072.10:c.2391+2_2391+3del MANE Select	ENSP00000233072.5:n.2391+2_2391+3del
ENST00000430249.7:c.2409+2_2409+3del	ENSP00000402608.2:n.2409+2_2409+3del
ENST00000451903.3:c.1038+2_1038+3del	ENSP00000406136.2:n.1038+2_1038+3del
ENST00000673510.1:c.2391+2_2391+3del	ENSP00000500537.1:n.2391+2_2391+3del
ENST00000673630.1:c.2391+2_2391+3del	ENSP00000501073.1:n.2391+2_2391+3del
ENST00000673698.1:c.871+2_871+3del
ENST00000673711.1:c.2391+2_2391+3del	ENSP00000501022.1:n.2391+2_2391+3del
ENST00000674074.1:n.1536+2_1536+3del
ENST00000233072.9:c.2391+2_2391+3del	ENSP00000233072.5:n.2391+2_2391+3del
ENST00000430249.6:c.2409+2_2409+3del	ENSP00000402608.2:n.2409+2_2409+3del
ENST00000451903.2:c.1038+2_1038+3del	ENSP00000406136.2:n.1038+2_1038+3del
NM_001122633.2:c.2409+2_2409+3del	NP_001116105.1:n.2409+2_2409+3del
NM_001122634.3:c.1038+2_1038+3del	NP_001116106.1:n.1038+2_1038+3del
NM_001875.4:c.2391+2_2391+3del , LRG_336t1:c.2391+2_2391+3del	NP_001866.2:n.2391+2_2391+3del
XM_011510640.1:c.2424+2_2424+3del	XP_011508942.1:n.2424+2_2424+3del
XM_011510641.1:c.2391+2_2391+3del	XP_011508943.1:n.2391+2_2391+3del
XM_011510642.1:c.2391+2_2391+3del	XP_011508944.1:n.2391+2_2391+3del
XM_011510643.1:c.2391+2_2391+3del	XP_011508945.1:n.2391+2_2391+3del
XM_011510644.1:c.2391+2_2391+3del	XP_011508946.1:n.2391+2_2391+3del
NM_001122633.3:c.2391+2_2391+3del	NP_001116105.2:n.2391+2_2391+3del
NM_001369256.1:c.2424+2_2424+3del	NP_001356185.1:n.2424+2_2424+3del
NM_001369257.1:c.2391+2_2391+3del	NP_001356186.1:n.2391+2_2391+3del
NM_001875.5:c.2391+2_2391+3del MANE Select	NP_001866.2:n.2391+2_2391+3del
NR_161225.1:n.3300+2_3300+3del
NR_163592.1:n.1547+2_1547+3del