Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.112094992_112094994delinsAAG , CM000673.2:g.112094992_112094994delinsAAG	GRCh38
NC_000011.9:g.111965716_111965718delinsAAG , CM000673.1:g.111965716_111965718delinsAAG	GRCh37
NC_000011.8:g.111470926_111470928delinsAAG	NCBI36
NG_012337.2:g.13146_13148delinsAAG
NG_012337.3:g.13146_13148delinsAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000530923.6:c.241_243delinsAAG	ENSP00000432946.2:n.241_243delinsAAG
ENST00000534010.2:c.314+5981_314+5983delinsAAG	ENSP00000433202.2:n.314+5981_314+5983delinsAAG
ENST00000375549.8:c.22_24delinsAAG MANE Select	ENSP00000364699.3:n.22_24delinsAAG
ENST00000528021.6:c.314+5981_314+5983delinsAAG	ENSP00000432465.1:n.314+5981_314+5983delinsAAG
ENST00000375549.7:c.22_24delinsAAG	ENSP00000364699.3:n.22_24delinsAAG
ENST00000525291.5:c.22_24delinsAAG	ENSP00000436669.1:n.22_24delinsAAG
ENST00000525987.5:n.319+5981_319+5983delinsAAG
ENST00000526592.5:c.200_202delinsAAG	ENSP00000432005.1:n.200_202delinsAAG
ENST00000528021.5:c.314+5981_314+5983delinsAAG	ENSP00000432465.1:n.314+5981_314+5983delinsAAG
ENST00000528048.5:c.99_101delinsAAG	ENSP00000436217.1:n.99_101delinsAAG
ENST00000528182.5:c.99_101delinsAAG	ENSP00000435475.1:n.99_101delinsAAG
ENST00000530923.5:c.546_548delinsAAG
ENST00000531744.5:c.314+5981_314+5983delinsAAG	ENSP00000456957.1:n.314+5981_314+5983delinsAAG
ENST00000532699.1:c.314+5981_314+5983delinsAAG	ENSP00000456434.1:n.314+5981_314+5983delinsAAG
ENST00000534010.1:c.145+5981_145+5983delinsAAG
NM_001276503.1:c.99_101delinsAAG	NP_001263432.1:n.99_101delinsAAG
NM_001276504.1:c.22_24delinsAAG	NP_001263433.1:n.22_24delinsAAG
NM_001276506.1:c.200_202delinsAAG	NP_001263435.1:n.200_202delinsAAG
NM_003002.3:c.22_24delinsAAG	NP_002993.1:n.22_24delinsAAG
NR_077060.1:n.640_642delinsAAG
NM_003002.4:c.22_24delinsAAG MANE Select	NP_002993.1:n.22_24delinsAAG
NM_001276503.2:c.99_101delinsAAG	NP_001263432.1:n.99_101delinsAAG
NM_001276504.2:c.22_24delinsAAG	NP_001263433.1:n.22_24delinsAAG
NM_001276506.2:c.200_202delinsAAG	NP_001263435.1:n.200_202delinsAAG
NR_077060.2:n.591_593delinsAAG

HGVS	Amino-acid Change
ENST00000530923.6:c.241_243delinsAAG	ENSP00000432946.2:n.241_243delinsAAG
ENST00000534010.2:c.314+5981_314+5983delinsAAG	ENSP00000433202.2:n.314+5981_314+5983delinsAAG
ENST00000375549.8:c.22_24delinsAAG MANE Select	ENSP00000364699.3:n.22_24delinsAAG
ENST00000528021.6:c.314+5981_314+5983delinsAAG	ENSP00000432465.1:n.314+5981_314+5983delinsAAG
ENST00000375549.7:c.22_24delinsAAG	ENSP00000364699.3:n.22_24delinsAAG
ENST00000525291.5:c.22_24delinsAAG	ENSP00000436669.1:n.22_24delinsAAG
ENST00000525987.5:n.319+5981_319+5983delinsAAG
ENST00000526592.5:c.200_202delinsAAG	ENSP00000432005.1:n.200_202delinsAAG
ENST00000528021.5:c.314+5981_314+5983delinsAAG	ENSP00000432465.1:n.314+5981_314+5983delinsAAG
ENST00000528048.5:c.99_101delinsAAG	ENSP00000436217.1:n.99_101delinsAAG
ENST00000528182.5:c.99_101delinsAAG	ENSP00000435475.1:n.99_101delinsAAG
ENST00000530923.5:c.546_548delinsAAG
ENST00000531744.5:c.314+5981_314+5983delinsAAG	ENSP00000456957.1:n.314+5981_314+5983delinsAAG
ENST00000532699.1:c.314+5981_314+5983delinsAAG	ENSP00000456434.1:n.314+5981_314+5983delinsAAG
ENST00000534010.1:c.145+5981_145+5983delinsAAG
NM_001276503.1:c.99_101delinsAAG	NP_001263432.1:n.99_101delinsAAG
NM_001276504.1:c.22_24delinsAAG	NP_001263433.1:n.22_24delinsAAG
NM_001276506.1:c.200_202delinsAAG	NP_001263435.1:n.200_202delinsAAG
NM_003002.3:c.22_24delinsAAG	NP_002993.1:n.22_24delinsAAG
NR_077060.1:n.640_642delinsAAG
NM_003002.4:c.22_24delinsAAG MANE Select	NP_002993.1:n.22_24delinsAAG
NM_001276503.2:c.99_101delinsAAG	NP_001263432.1:n.99_101delinsAAG
NM_001276504.2:c.22_24delinsAAG	NP_001263433.1:n.22_24delinsAAG
NM_001276506.2:c.200_202delinsAAG	NP_001263435.1:n.200_202delinsAAG
NR_077060.2:n.591_593delinsAAG