Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185811285_185811286delinsAC , CM000665.2:g.185811285_185811286delinsAC	GRCh38
NC_000003.11:g.185529073_185529074delinsAC , CM000665.1:g.185529073_185529074delinsAC	GRCh37
NC_000003.10:g.187011767_187011768delinsAC	NCBI36
NG_011602.1:g.18754_18755delinsGT

Transcript Alleles

HGVS	Amino-acid change
ENST00000382199.7:c.239+11867_239+11868delinsGT MANE Select	ENSP00000371634.3:n.239+11867_239+11868de...
ENST00000346192.7:c.239+11867_239+11868delinsGT	ENSP00000320204.5:n.239+11867_239+11868de...
ENST00000382199.6:c.239+11867_239+11868delinsGT	ENSP00000371634.2:n.239+11867_239+11868de...
ENST00000421047.3:c.50+9726_50+9727delinsGT	ENSP00000413787.3:n.50+9726_50+9727delins...
ENST00000457616.6:c.239+11867_239+11868delinsGT	ENSP00000410242.2:n.239+11867_239+11868de...
ENST00000461957.5:n.119+11867_119+11868delinsGT
ENST00000466476.1:n.171+11867_171+11868delinsGT
ENST00000493302.5:n.120+9726_120+9727delinsGT
NM_001007225.1:c.239+11867_239+11868delinsGT	NP_001007226.1:n.239+11867_239+11868delin...
NM_001291869.1:c.239+11867_239+11868delinsGT	NP_001278798.1:n.239+11867_239+11868delin...
NM_001291872.1:c.50+9726_50+9727delinsGT	NP_001278801.1:n.50+9726_50+9727delinsGT
NM_001291873.1:c.50+9726_50+9727delinsGT	NP_001278802.1:n.50+9726_50+9727delinsGT
NM_001291874.1:c.50+9726_50+9727delinsGT	NP_001278803.1:n.50+9726_50+9727delinsGT
NM_001291875.1:c.-106+9726_-106+9727delinsGT	NP_001278804.1:n.-106+9726_-106+9727delin...
NM_006548.4:c.239+11867_239+11868delinsGT	NP_006539.3:n.239+11867_239+11868delinsGT...
XM_011512338.1:c.239+11867_239+11868delinsGT	XP_011510640.1:n.239+11867_239+11868delin...
XM_011512339.1:c.239+11867_239+11868delinsGT	XP_011510641.1:n.239+11867_239+11868delin...
XM_011512341.1:c.239+11867_239+11868delinsGT	XP_011510643.1:n.239+11867_239+11868delin...
XR_427358.2:n.318+11867_318+11868delinsGT
NM_001007225.2:c.239+11867_239+11868delinsGT	NP_001007226.1:n.239+11867_239+11868delin...
NM_001291869.2:c.239+11867_239+11868delinsGT	NP_001278798.1:n.239+11867_239+11868delin...
NM_001291872.2:c.50+9726_50+9727delinsGT	NP_001278801.1:n.50+9726_50+9727delinsGT
NM_001291873.2:c.50+9726_50+9727delinsGT	NP_001278802.1:n.50+9726_50+9727delinsGT
NM_001291874.2:c.50+9726_50+9727delinsGT	NP_001278803.1:n.50+9726_50+9727delinsGT
NM_001291875.2:c.-106+9726_-106+9727delinsGT	NP_001278804.1:n.-106+9726_-106+9727delin...
NM_006548.5:c.239+11867_239+11868delinsGT	NP_006539.3:n.239+11867_239+11868delinsGT...
NR_138486.1:n.335+11867_335+11868delinsGT
XM_017005557.2:c.178+13497_178+13498delinsGT	XP_016861046.1:n.178+13497_178+13498delin...
XM_017005558.2:c.239+11867_239+11868delinsGT	XP_016861047.1:n.239+11867_239+11868delin...
XM_017005559.2:c.239+11867_239+11868delinsGT	XP_016861048.1:n.239+11867_239+11868delin...
XM_017005560.2:c.35+11867_35+11868delinsGT	XP_016861049.1:n.35+11867_35+11868delinsG...
XM_017005561.1:c.239+11867_239+11868delinsGT	XP_016861050.1:n.239+11867_239+11868delin...
XM_017005562.1:c.239+11867_239+11868delinsGT	XP_016861051.1:n.239+11867_239+11868delin...
XM_017005563.1:c.239+11867_239+11868delinsGT	XP_016861052.1:n.239+11867_239+11868delin...
XM_017005564.1:c.239+11867_239+11868delinsGT	XP_016861053.1:n.239+11867_239+11868delin...
XM_024453316.1:c.-170+13497_-170+13498delinsGT	XP_024309084.1:n.-170+13497_-170+13498del...
XR_001739984.2:n.324+11867_324+11868delinsGT
NM_001007225.3:c.239+11867_239+11868delinsGT	NP_001007226.1:n.239+11867_239+11868delin...
NM_001291869.3:c.239+11867_239+11868delinsGT	NP_001278798.1:n.239+11867_239+11868delin...
NM_001291872.3:c.50+9726_50+9727delinsGT	NP_001278801.1:n.50+9726_50+9727delinsGT
NM_001291874.3:c.50+9726_50+9727delinsGT	NP_001278803.1:n.50+9726_50+9727delinsGT
NM_001291875.3:c.-106+9726_-106+9727delinsGT	NP_001278804.1:n.-106+9726_-106+9727delin...
NM_006548.6:c.239+11867_239+11868delinsGT MANE Select	NP_006539.3:n.239+11867_239+11868delinsGT...
NR_138486.2:n.321+11867_321+11868delinsGT
NM_001291873.3:c.50+9726_50+9727delinsGT	NP_001278802.1:n.50+9726_50+9727delinsGT