Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.77942832_77942834delinsACT , CM000663.2:g.77942832_77942834delinsACT	GRCh38
NC_000001.10:g.78408517_78408519delinsACT , CM000663.1:g.78408517_78408519delinsACT	GRCh37
NC_000001.9:g.78181105_78181107delinsACT	NCBI36
NG_016625.1:g.59318_59320delinsACT , LRG_442:g.59318_59320delinsACT
NG_033243.2:g.41260_41262delinsAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334785.12:c.3_5delinsACT MANE Select	ENSP00000333938.7:n.3_5delinsACT
ENST00000330010.12:c.3_5delinsACT	ENSP00000327363.8:n.3_5delinsACT
ENST00000334785.11:c.3_5delinsACT	ENSP00000333938.7:n.3_5delinsACT
ENST00000342754.5:c.1716+14_1716+16delinsACT
ENST00000480732.2:n.1605_1607delinsACT
NM_001172309.1:c.3_5delinsACT	NP_001165780.1:n.3_5delinsACT
NM_144573.3:c.3_5delinsACT , LRG_442t1:c.3_5delinsACT	NP_653174.3:n.3_5delinsACT
XM_005271322.2:c.2017+14_2017+16delinsACT	XP_005271379.1:n.2017+14_2017+16delinsACT
XM_005271323.2:c.1975+14_1975+16delinsACT	XP_005271380.1:n.1975+14_1975+16delinsACT
XM_005271324.3:c.1825+14_1825+16delinsACT	XP_005271381.1:n.1825+14_1825+16delinsACT
XM_005271325.2:c.1795+14_1795+16delinsACT	XP_005271382.1:n.1795+14_1795+16delinsACT
XM_005271326.2:c.1783+14_1783+16delinsACT	XP_005271383.1:n.1783+14_1783+16delinsACT
XM_005271327.2:c.1600+14_1600+16delinsACT	XP_005271384.1:n.1600+14_1600+16delinsACT
XM_005271322.4:c.2017+14_2017+16delinsACT	XP_005271379.1:n.2017+14_2017+16delinsACT
XM_005271323.4:c.1975+14_1975+16delinsACT	XP_005271380.1:n.1975+14_1975+16delinsACT
XM_005271324.5:c.1825+14_1825+16delinsACT	XP_005271381.1:n.1825+14_1825+16delinsACT
XM_005271325.4:c.1795+14_1795+16delinsACT	XP_005271382.1:n.1795+14_1795+16delinsACT
XM_005271326.4:c.1783+14_1783+16delinsACT	XP_005271383.1:n.1783+14_1783+16delinsACT
XM_005271327.4:c.1600+14_1600+16delinsACT	XP_005271384.1:n.1600+14_1600+16delinsACT
NM_001172309.2:c.3_5delinsACT	NP_001165780.1:n.3_5delinsACT
NM_144573.4:c.3_5delinsACT MANE Select	NP_653174.3:n.3_5delinsACT