Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50732926_50732927delinsGT , CM000678.2:g.50732926_50732927delinsGT	GRCh38
NC_000016.9:g.50766837_50766838delinsGT , CM000678.1:g.50766837_50766838delinsGT	GRCh37
NC_000016.8:g.49324338_49324339delinsGT	NCBI36
NG_007508.1:g.40788_40789delinsGT , LRG_177:g.40788_40789delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.1263_1264delinsGT	ENSP00000493088.1:n.1263_1264delinsGT
ENST00000646677.2:c.1914_1915delinsGT	ENSP00000496533.1:n.1914_1915delinsGT
ENST00000697428.1:n.3627_3628delinsGT
ENST00000641284.1:c.1263_1264delinsGT	ENSP00000493088.1:n.1263_1264delinsGT
ENST00000646677.1:c.1914_1915delinsGT	ENSP00000496533.1:n.1914_1915delinsGT
ENST00000647318.2:c.1107_1108delinsGT MANE Select	ENSP00000495993.1:n.1107_1108delinsGT
ENST00000300589.6:c.1107_1108delinsGT	ENSP00000300589.2:n.1107_1108delinsGT
NM_001293557.1:c.1107_1108delinsGT	NP_001280486.1:n.1107_1108delinsGT
NM_022162.2:c.1107_1108delinsGT	NP_071445.1:n.1107_1108delinsGT
XM_005256084.2:c.1107_1108delinsGT	XP_005256141.1:n.1107_1108delinsGT
XM_006721242.2:c.1107_1108delinsGT	XP_006721305.1:n.1107_1108delinsGT
XM_011523257.1:c.1107_1108delinsGT	XP_011521559.1:n.1107_1108delinsGT
XM_011523258.1:c.1107_1108delinsGT	XP_011521560.1:n.1107_1108delinsGT
XM_011523259.1:c.1107_1108delinsGT	XP_011521561.1:n.1107_1108delinsGT
XM_005256084.4:c.1107_1108delinsGT	XP_005256141.1:n.1107_1108delinsGT
XM_006721242.4:c.1107_1108delinsGT	XP_006721305.1:n.1107_1108delinsGT
XM_011523259.2:c.1107_1108delinsGT	XP_011521561.1:n.1107_1108delinsGT
XM_017023535.1:c.1107_1108delinsGT	XP_016879024.1:n.1107_1108delinsGT
XM_017023536.1:c.1107_1108delinsGT	XP_016879025.1:n.1107_1108delinsGT
XM_017023537.1:c.1107_1108delinsGT	XP_016879026.1:n.1107_1108delinsGT
XM_017023538.1:c.1107_1108delinsGT	XP_016879027.1:n.1107_1108delinsGT
NM_001293557.2:c.1107_1108delinsGT	NP_001280486.1:n.1107_1108delinsGT
NM_001370466.1:c.1107_1108delinsGT MANE Select	NP_001357395.1:n.1107_1108delinsGT
NM_022162.3:c.1107_1108delinsGT	NP_071445.1:n.1107_1108delinsGT
NR_163434.1:n.4361_4362delinsGT

HGVS	Amino-acid Change
ENST00000641284.2:c.1263_1264delinsGT	ENSP00000493088.1:n.1263_1264delinsGT
ENST00000646677.2:c.1914_1915delinsGT	ENSP00000496533.1:n.1914_1915delinsGT
ENST00000697428.1:n.3627_3628delinsGT
ENST00000641284.1:c.1263_1264delinsGT	ENSP00000493088.1:n.1263_1264delinsGT
ENST00000646677.1:c.1914_1915delinsGT	ENSP00000496533.1:n.1914_1915delinsGT
ENST00000647318.2:c.1107_1108delinsGT MANE Select	ENSP00000495993.1:n.1107_1108delinsGT
ENST00000300589.6:c.1107_1108delinsGT	ENSP00000300589.2:n.1107_1108delinsGT
NM_001293557.1:c.1107_1108delinsGT	NP_001280486.1:n.1107_1108delinsGT
NM_022162.2:c.1107_1108delinsGT	NP_071445.1:n.1107_1108delinsGT
XM_005256084.2:c.1107_1108delinsGT	XP_005256141.1:n.1107_1108delinsGT
XM_006721242.2:c.1107_1108delinsGT	XP_006721305.1:n.1107_1108delinsGT
XM_011523257.1:c.1107_1108delinsGT	XP_011521559.1:n.1107_1108delinsGT
XM_011523258.1:c.1107_1108delinsGT	XP_011521560.1:n.1107_1108delinsGT
XM_011523259.1:c.1107_1108delinsGT	XP_011521561.1:n.1107_1108delinsGT
XM_005256084.4:c.1107_1108delinsGT	XP_005256141.1:n.1107_1108delinsGT
XM_006721242.4:c.1107_1108delinsGT	XP_006721305.1:n.1107_1108delinsGT
XM_011523259.2:c.1107_1108delinsGT	XP_011521561.1:n.1107_1108delinsGT
XM_017023535.1:c.1107_1108delinsGT	XP_016879024.1:n.1107_1108delinsGT
XM_017023536.1:c.1107_1108delinsGT	XP_016879025.1:n.1107_1108delinsGT
XM_017023537.1:c.1107_1108delinsGT	XP_016879026.1:n.1107_1108delinsGT
XM_017023538.1:c.1107_1108delinsGT	XP_016879027.1:n.1107_1108delinsGT
NM_001293557.2:c.1107_1108delinsGT	NP_001280486.1:n.1107_1108delinsGT
NM_001370466.1:c.1107_1108delinsGT MANE Select	NP_001357395.1:n.1107_1108delinsGT
NM_022162.3:c.1107_1108delinsGT	NP_071445.1:n.1107_1108delinsGT
NR_163434.1:n.4361_4362delinsGT