Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112507226_112507230delinsAAGTC , CM000674.2:g.112507226_112507230delinsAAGTC	GRCh38
NC_000012.11:g.112945030_112945034delinsAAGTC , CM000674.1:g.112945030_112945034delinsAAGTC	GRCh37
NC_000012.10:g.111429413_111429417delinsAAGTC	NCBI36
NG_007459.1:g.93495_93499delinsAAGTC , LRG_614:g.93495_93499delinsAAGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1377_1381delinsAAGTC	ENSP00000491593.2:n.1377_1381delinsAAGTC
ENST00000685487.1:c.2418_2422delinsAAGTC	ENSP00000508503.1:n.2418_2422delinsAAGTC
ENST00000687120.1:n.5037_5041delinsAAGTC
ENST00000687906.1:c.1434_1438delinsAAGTC	ENSP00000509536.1:n.1434_1438delinsAAGTC
ENST00000688597.1:c.1434_1438delinsAAGTC	ENSP00000510628.1:n.1434_1438delinsAAGTC
ENST00000688701.1:n.2460_2464delinsAAGTC
ENST00000690210.1:c.1434_1438delinsAAGTC	ENSP00000509272.1:n.1434_1438delinsAAGTC
ENST00000690472.1:n.2425_2429delinsAAGTC
ENST00000692624.1:c.1762_1766delinsAAGTC	ENSP00000508953.1:n.1762_1766delinsAAGTC
ENST00000351677.7:c.1434_1438delinsAAGTC MANE Select	ENSP00000340944.3:n.1434_1438delinsAAGTC
ENST00000351677.6:c.1434_1438delinsAAGTC	ENSP00000340944.2:n.1434_1438delinsAAGTC
NM_002834.3:c.1434_1438delinsAAGTC , LRG_614t1:c.1434_1438delinsAAGTC	NP_002825.3:n.1434_1438delinsAAGTC
XM_006719526.1:c.1434_1438delinsAAGTC	XP_006719589.1:n.1434_1438delinsAAGTC
XM_006719527.1:c.1434_1438delinsAAGTC	XP_006719590.1:n.1434_1438delinsAAGTC
XM_011538613.1:c.1434_1438delinsAAGTC	XP_011536915.1:n.1434_1438delinsAAGTC
NM_001330437.1:c.1434_1438delinsAAGTC	NP_001317366.1:n.1434_1438delinsAAGTC
NM_002834.4:c.1434_1438delinsAAGTC	NP_002825.3:n.1434_1438delinsAAGTC
XM_011538613.2:c.1434_1438delinsAAGTC	XP_011536915.1:n.1434_1438delinsAAGTC
XM_017019722.1:c.1434_1438delinsAAGTC	XP_016875211.1:n.1434_1438delinsAAGTC
NM_001330437.2:c.1434_1438delinsAAGTC	NP_001317366.1:n.1434_1438delinsAAGTC
NM_001374625.1:c.1434_1438delinsAAGTC	NP_001361554.1:n.1434_1438delinsAAGTC
NM_002834.5:c.1434_1438delinsAAGTC MANE Select	NP_002825.3:n.1434_1438delinsAAGTC

HGVS	Amino-acid Change
ENST00000639857.2:c.1377_1381delinsAAGTC	ENSP00000491593.2:n.1377_1381delinsAAGTC
ENST00000685487.1:c.2418_2422delinsAAGTC	ENSP00000508503.1:n.2418_2422delinsAAGTC
ENST00000687120.1:n.5037_5041delinsAAGTC
ENST00000687906.1:c.1434_1438delinsAAGTC	ENSP00000509536.1:n.1434_1438delinsAAGTC
ENST00000688597.1:c.1434_1438delinsAAGTC	ENSP00000510628.1:n.1434_1438delinsAAGTC
ENST00000688701.1:n.2460_2464delinsAAGTC
ENST00000690210.1:c.1434_1438delinsAAGTC	ENSP00000509272.1:n.1434_1438delinsAAGTC
ENST00000690472.1:n.2425_2429delinsAAGTC
ENST00000692624.1:c.1762_1766delinsAAGTC	ENSP00000508953.1:n.1762_1766delinsAAGTC
ENST00000351677.7:c.1434_1438delinsAAGTC MANE Select	ENSP00000340944.3:n.1434_1438delinsAAGTC
ENST00000351677.6:c.1434_1438delinsAAGTC	ENSP00000340944.2:n.1434_1438delinsAAGTC
NM_002834.3:c.1434_1438delinsAAGTC , LRG_614t1:c.1434_1438delinsAAGTC	NP_002825.3:n.1434_1438delinsAAGTC
XM_006719526.1:c.1434_1438delinsAAGTC	XP_006719589.1:n.1434_1438delinsAAGTC
XM_006719527.1:c.1434_1438delinsAAGTC	XP_006719590.1:n.1434_1438delinsAAGTC
XM_011538613.1:c.1434_1438delinsAAGTC	XP_011536915.1:n.1434_1438delinsAAGTC
NM_001330437.1:c.1434_1438delinsAAGTC	NP_001317366.1:n.1434_1438delinsAAGTC
NM_002834.4:c.1434_1438delinsAAGTC	NP_002825.3:n.1434_1438delinsAAGTC
XM_011538613.2:c.1434_1438delinsAAGTC	XP_011536915.1:n.1434_1438delinsAAGTC
XM_017019722.1:c.1434_1438delinsAAGTC	XP_016875211.1:n.1434_1438delinsAAGTC
NM_001330437.2:c.1434_1438delinsAAGTC	NP_001317366.1:n.1434_1438delinsAAGTC
NM_001374625.1:c.1434_1438delinsAAGTC	NP_001361554.1:n.1434_1438delinsAAGTC
NM_002834.5:c.1434_1438delinsAAGTC MANE Select	NP_002825.3:n.1434_1438delinsAAGTC