Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.100213030_100213038del , CM000670.2:g.100213030_100213038del	GRCh38
NC_000008.10:g.101225258_101225266del , CM000670.1:g.101225258_101225266del	GRCh37
NC_000008.9:g.101294434_101294442del	NCBI36
NG_033834.1:g.59996_60004del
NG_033834.2:g.59996_60004del

Transcript Alleles

HGVS	Amino-acid Change
NM_003114.5:c.1097-60_1097-52del MANE Select	NP_003105.2:n.1097-60_1097-52del
ENST00000388798.7:c.1097-60_1097-52del MANE Select	ENSP00000373450.3:n.1097-60_1097-52del
NM_001374321.1:c.1097-60_1097-52del	NP_001361250.1:n.1097-60_1097-52del
NM_003114.4:c.1097-60_1097-52del	NP_003105.2:n.1097-60_1097-52del
NM_172218.2:c.1097-60_1097-52del	NP_757367.1:n.1097-60_1097-52del
NM_172218.3:c.1097-60_1097-52del	NP_757367.1:n.1097-60_1097-52del
ENST00000251809.4:c.1097-60_1097-52del	ENSP00000251809.3:n.1097-60_1097-52del
ENST00000388798.6:c.1097-60_1097-52del	ENSP00000373450.2:n.1097-60_1097-52del
XM_011517240.1:c.1097-60_1097-52del	XP_011515542.1:n.1097-60_1097-52del
XM_011517240.2:c.1097-60_1097-52del	XP_011515542.1:n.1097-60_1097-52del
XM_011517241.1:c.1097-60_1097-52del	XP_011515543.1:n.1097-60_1097-52del
XM_011517241.2:c.1097-60_1097-52del	XP_011515543.1:n.1097-60_1097-52del
XM_011517242.1:c.1097-60_1097-52del	XP_011515544.1:n.1097-60_1097-52del
XM_011517242.2:c.1097-60_1097-52del	XP_011515544.1:n.1097-60_1097-52del
XM_011517243.1:c.1097-60_1097-52del	XP_011515545.1:n.1097-60_1097-52del
XM_011517243.2:c.1097-60_1097-52del	XP_011515545.1:n.1097-60_1097-52del
XM_011517244.1:c.1097-60_1097-52del	XP_011515546.1:n.1097-60_1097-52del
XM_011517245.1:c.1097-60_1097-52del	XP_011515547.1:n.1097-60_1097-52del
XM_011517245.2:c.1097-60_1097-52del	XP_011515547.1:n.1097-60_1097-52del
XM_017013754.1:c.1202-60_1202-52del	XP_016869243.1:n.1202-60_1202-52del
XM_017013755.1:c.761-60_761-52del	XP_016869244.1:n.761-60_761-52del
XR_001745580.1:n.1183-60_1183-52del
XR_001745581.1:n.1183-60_1183-52del
XR_001745582.1:n.1183-60_1183-52del
XR_001745583.1:n.1183-60_1183-52del