Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112095083_112095086delinsCCTT , CM000673.2:g.112095083_112095086delinsCCTT	GRCh38
NC_000011.9:g.111965807_111965810delinsCCTT , CM000673.1:g.111965807_111965810delinsCCTT	GRCh37
NC_000011.8:g.111471017_111471020delinsCCTT	NCBI36
NG_012337.2:g.13237_13240delinsCCTT
NG_012337.3:g.13237_13240delinsCCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.332_335delinsCCTT	ENSP00000432946.2:n.332_335delinsCCTT
ENST00000534010.2:c.314+6072_314+6075delinsCCTT	ENSP00000433202.2:n.314+6072_314+6075delinsCCTT
ENST00000375549.8:c.113_116delinsCCTT MANE Select	ENSP00000364699.3:n.113_116delinsCCTT
ENST00000528021.6:c.314+6072_314+6075delinsCCTT	ENSP00000432465.1:n.314+6072_314+6075delinsCCTT
ENST00000375549.7:c.113_116delinsCCTT	ENSP00000364699.3:n.113_116delinsCCTT
ENST00000525291.5:c.113_116delinsCCTT	ENSP00000436669.1:n.113_116delinsCCTT
ENST00000525987.5:n.319+6072_319+6075delinsCCTT
ENST00000526592.5:c.291_294delinsCCTT	ENSP00000432005.1:n.291_294delinsCCTT
ENST00000528021.5:c.314+6072_314+6075delinsCCTT	ENSP00000432465.1:n.314+6072_314+6075delinsCCTT
ENST00000528048.5:c.190_193delinsCCTT	ENSP00000436217.1:n.190_193delinsCCTT
ENST00000528182.5:c.190_193delinsCCTT	ENSP00000435475.1:n.190_193delinsCCTT
ENST00000530923.5:c.637_640delinsCCTT
ENST00000531744.5:c.314+6072_314+6075delinsCCTT	ENSP00000456957.1:n.314+6072_314+6075delinsCCTT
ENST00000532699.1:c.314+6072_314+6075delinsCCTT	ENSP00000456434.1:n.314+6072_314+6075delinsCCTT
ENST00000534010.1:c.145+6072_145+6075delinsCCTT
NM_001276503.1:c.190_193delinsCCTT	NP_001263432.1:n.190_193delinsCCTT
NM_001276504.1:c.113_116delinsCCTT	NP_001263433.1:n.113_116delinsCCTT
NM_001276506.1:c.291_294delinsCCTT	NP_001263435.1:n.291_294delinsCCTT
NM_003002.3:c.113_116delinsCCTT	NP_002993.1:n.113_116delinsCCTT
NR_077060.1:n.731_734delinsCCTT
NM_003002.4:c.113_116delinsCCTT MANE Select	NP_002993.1:n.113_116delinsCCTT
NM_001276503.2:c.190_193delinsCCTT	NP_001263432.1:n.190_193delinsCCTT
NM_001276504.2:c.113_116delinsCCTT	NP_001263433.1:n.113_116delinsCCTT
NM_001276506.2:c.291_294delinsCCTT	NP_001263435.1:n.291_294delinsCCTT
NR_077060.2:n.682_685delinsCCTT

HGVS	Amino-acid Change
ENST00000530923.6:c.332_335delinsCCTT	ENSP00000432946.2:n.332_335delinsCCTT
ENST00000534010.2:c.314+6072_314+6075delinsCCTT	ENSP00000433202.2:n.314+6072_314+6075delinsCCTT
ENST00000375549.8:c.113_116delinsCCTT MANE Select	ENSP00000364699.3:n.113_116delinsCCTT
ENST00000528021.6:c.314+6072_314+6075delinsCCTT	ENSP00000432465.1:n.314+6072_314+6075delinsCCTT
ENST00000375549.7:c.113_116delinsCCTT	ENSP00000364699.3:n.113_116delinsCCTT
ENST00000525291.5:c.113_116delinsCCTT	ENSP00000436669.1:n.113_116delinsCCTT
ENST00000525987.5:n.319+6072_319+6075delinsCCTT
ENST00000526592.5:c.291_294delinsCCTT	ENSP00000432005.1:n.291_294delinsCCTT
ENST00000528021.5:c.314+6072_314+6075delinsCCTT	ENSP00000432465.1:n.314+6072_314+6075delinsCCTT
ENST00000528048.5:c.190_193delinsCCTT	ENSP00000436217.1:n.190_193delinsCCTT
ENST00000528182.5:c.190_193delinsCCTT	ENSP00000435475.1:n.190_193delinsCCTT
ENST00000530923.5:c.637_640delinsCCTT
ENST00000531744.5:c.314+6072_314+6075delinsCCTT	ENSP00000456957.1:n.314+6072_314+6075delinsCCTT
ENST00000532699.1:c.314+6072_314+6075delinsCCTT	ENSP00000456434.1:n.314+6072_314+6075delinsCCTT
ENST00000534010.1:c.145+6072_145+6075delinsCCTT
NM_001276503.1:c.190_193delinsCCTT	NP_001263432.1:n.190_193delinsCCTT
NM_001276504.1:c.113_116delinsCCTT	NP_001263433.1:n.113_116delinsCCTT
NM_001276506.1:c.291_294delinsCCTT	NP_001263435.1:n.291_294delinsCCTT
NM_003002.3:c.113_116delinsCCTT	NP_002993.1:n.113_116delinsCCTT
NR_077060.1:n.731_734delinsCCTT
NM_003002.4:c.113_116delinsCCTT MANE Select	NP_002993.1:n.113_116delinsCCTT
NM_001276503.2:c.190_193delinsCCTT	NP_001263432.1:n.190_193delinsCCTT
NM_001276504.2:c.113_116delinsCCTT	NP_001263433.1:n.113_116delinsCCTT
NM_001276506.2:c.291_294delinsCCTT	NP_001263435.1:n.291_294delinsCCTT
NR_077060.2:n.682_685delinsCCTT