Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.50732897_50732898delinsCT , CM000678.2:g.50732897_50732898delinsCT	GRCh38
NC_000016.9:g.50766808_50766809delinsCT , CM000678.1:g.50766808_50766809delinsCT	GRCh37
NC_000016.8:g.49324309_49324310delinsCT	NCBI36
NG_007508.1:g.40759_40760delinsCT , LRG_177:g.40759_40760delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000641284.2:c.1234_1235delinsCT	ENSP00000493088.1:n.1234_1235delinsCT
ENST00000646677.2:c.1885_1886delinsCT	ENSP00000496533.1:n.1885_1886delinsCT
ENST00000697428.1:n.3598_3599delinsCT
ENST00000641284.1:c.1234_1235delinsCT	ENSP00000493088.1:n.1234_1235delinsCT
ENST00000646677.1:c.1885_1886delinsCT	ENSP00000496533.1:n.1885_1886delinsCT
ENST00000647318.2:c.1078_1079delinsCT MANE Select	ENSP00000495993.1:n.1078_1079delinsCT
ENST00000300589.6:c.1078_1079delinsCT	ENSP00000300589.2:n.1078_1079delinsCT
NM_001293557.1:c.1078_1079delinsCT	NP_001280486.1:n.1078_1079delinsCT
NM_022162.2:c.1078_1079delinsCT	NP_071445.1:n.1078_1079delinsCT
XM_005256084.2:c.1078_1079delinsCT	XP_005256141.1:n.1078_1079delinsCT
XM_006721242.2:c.1078_1079delinsCT	XP_006721305.1:n.1078_1079delinsCT
XM_011523257.1:c.1078_1079delinsCT	XP_011521559.1:n.1078_1079delinsCT
XM_011523258.1:c.1078_1079delinsCT	XP_011521560.1:n.1078_1079delinsCT
XM_011523259.1:c.1078_1079delinsCT	XP_011521561.1:n.1078_1079delinsCT
XM_005256084.4:c.1078_1079delinsCT	XP_005256141.1:n.1078_1079delinsCT
XM_006721242.4:c.1078_1079delinsCT	XP_006721305.1:n.1078_1079delinsCT
XM_011523259.2:c.1078_1079delinsCT	XP_011521561.1:n.1078_1079delinsCT
XM_017023535.1:c.1078_1079delinsCT	XP_016879024.1:n.1078_1079delinsCT
XM_017023536.1:c.1078_1079delinsCT	XP_016879025.1:n.1078_1079delinsCT
XM_017023537.1:c.1078_1079delinsCT	XP_016879026.1:n.1078_1079delinsCT
XM_017023538.1:c.1078_1079delinsCT	XP_016879027.1:n.1078_1079delinsCT
NM_001293557.2:c.1078_1079delinsCT	NP_001280486.1:n.1078_1079delinsCT
NM_001370466.1:c.1078_1079delinsCT MANE Select	NP_001357395.1:n.1078_1079delinsCT
NM_022162.3:c.1078_1079delinsCT	NP_071445.1:n.1078_1079delinsCT
NR_163434.1:n.4332_4333delinsCT

HGVS	Amino-acid Change
ENST00000641284.2:c.1234_1235delinsCT	ENSP00000493088.1:n.1234_1235delinsCT
ENST00000646677.2:c.1885_1886delinsCT	ENSP00000496533.1:n.1885_1886delinsCT
ENST00000697428.1:n.3598_3599delinsCT
ENST00000641284.1:c.1234_1235delinsCT	ENSP00000493088.1:n.1234_1235delinsCT
ENST00000646677.1:c.1885_1886delinsCT	ENSP00000496533.1:n.1885_1886delinsCT
ENST00000647318.2:c.1078_1079delinsCT MANE Select	ENSP00000495993.1:n.1078_1079delinsCT
ENST00000300589.6:c.1078_1079delinsCT	ENSP00000300589.2:n.1078_1079delinsCT
NM_001293557.1:c.1078_1079delinsCT	NP_001280486.1:n.1078_1079delinsCT
NM_022162.2:c.1078_1079delinsCT	NP_071445.1:n.1078_1079delinsCT
XM_005256084.2:c.1078_1079delinsCT	XP_005256141.1:n.1078_1079delinsCT
XM_006721242.2:c.1078_1079delinsCT	XP_006721305.1:n.1078_1079delinsCT
XM_011523257.1:c.1078_1079delinsCT	XP_011521559.1:n.1078_1079delinsCT
XM_011523258.1:c.1078_1079delinsCT	XP_011521560.1:n.1078_1079delinsCT
XM_011523259.1:c.1078_1079delinsCT	XP_011521561.1:n.1078_1079delinsCT
XM_005256084.4:c.1078_1079delinsCT	XP_005256141.1:n.1078_1079delinsCT
XM_006721242.4:c.1078_1079delinsCT	XP_006721305.1:n.1078_1079delinsCT
XM_011523259.2:c.1078_1079delinsCT	XP_011521561.1:n.1078_1079delinsCT
XM_017023535.1:c.1078_1079delinsCT	XP_016879024.1:n.1078_1079delinsCT
XM_017023536.1:c.1078_1079delinsCT	XP_016879025.1:n.1078_1079delinsCT
XM_017023537.1:c.1078_1079delinsCT	XP_016879026.1:n.1078_1079delinsCT
XM_017023538.1:c.1078_1079delinsCT	XP_016879027.1:n.1078_1079delinsCT
NM_001293557.2:c.1078_1079delinsCT	NP_001280486.1:n.1078_1079delinsCT
NM_001370466.1:c.1078_1079delinsCT MANE Select	NP_001357395.1:n.1078_1079delinsCT
NM_022162.3:c.1078_1079delinsCT	NP_071445.1:n.1078_1079delinsCT
NR_163434.1:n.4332_4333delinsCT