Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100573768_100573769del , CM000677.2:g.100573768_100573769del	GRCh38
NC_000015.9:g.101113973_101113974del , CM000677.1:g.101113973_101113974del	GRCh37
NC_000015.8:g.98931496_98931497del	NCBI36
NG_034076.1:g.33472_33473del
NG_034076.2:g.34264_34265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314742.13:c.1104_1105del MANE Select	ENSP00000318423.8:p.Gln368HisfsTer2
ENST00000314742.12:c.1104_1105del	ENSP00000318423.8:p.Gln368HisfsTer2
ENST00000559149.5:n.1261_1262del
ENST00000560133.5:c.747_748del	ENSP00000454929.1:p.Gln249HisfsTer2
ENST00000560783.1:c.73_74del
ENST00000561308.5:c.1104_1105del	ENSP00000454200.1:p.Gln368HisfsTer2
NM_001040616.2:c.1104_1105del	NP_001035706.1:p.Gln368HisfsTer2
XM_005254941.1:c.1104_1105del	XP_005254998.1:p.Gln368HisfsTer2
XM_005254943.1:c.1104_1105del	XP_005255000.1:p.Gln368HisfsTer2
XR_243210.2:n.1207_1208del
XR_429464.2:n.1207_1208del
XR_931862.1:n.1207_1208del
XR_931863.1:n.1207_1208del
XR_931864.1:n.1207_1208del
NM_001352507.1:c.357_358del	NP_001339436.1:p.Gln119HisfsTer2
NM_001352508.1:c.1059_1060del	NP_001339437.1:p.Gln353HisfsTer2
NR_148017.1:n.1327_1328del
NR_148018.1:n.1327_1328del
NR_148019.1:n.1331_1332del
XM_005254941.2:c.1104_1105del	XP_005254998.1:p.Gln368HisfsTer2
XM_005254943.2:c.1104_1105del	XP_005255000.1:p.Gln368HisfsTer2
XM_017022399.2:c.357_358del	XP_016877888.1:p.Gln119HisfsTer2
XM_017022400.2:c.357_358del	XP_016877889.1:p.Gln119HisfsTer2
XM_024449979.1:c.1104_1105del	XP_024305747.1:p.Gln368HisfsTer2
XM_024449980.1:c.1104_1105del	XP_024305748.1:p.Gln368HisfsTer2
XR_001751346.2:n.2119_2120del
XR_001751347.2:n.2119_2120del
XR_001751348.2:n.2119_2120del
XR_002957655.1:n.2119_2120del
XR_931862.3:n.2119_2120del
NM_001040616.3:c.1104_1105del MANE Select	NP_001035706.2:p.Gln368HisfsTer2
NM_001352507.2:c.357_358del	NP_001339436.1:p.Gln119HisfsTer2
NM_001352508.2:c.1059_1060del	NP_001339437.1:p.Gln353HisfsTer2
NR_148017.2:n.1271_1272del
NR_148018.2:n.1271_1272del
NR_148019.2:n.1275_1276del