Canonical Allele Identifier: CA2623806913

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113129597_113129599dup , CM000675.2:g.113129597_113129599dup GRCh38
NC_000013.10:g.113783911_113783913dup , CM000675.1:g.113783911_113783913dup GRCh37
NC_000013.9:g.112831912_112831914dup NCBI36
NG_009258.1:g.11799_11801dup , LRG_548:g.11799_11801dup

Transcript Alleles

HGVS Amino-acid change
ENST00000375559.8:c.216_218dup (F10) MANE Select ENSP00000364709.3:p.Glu72_Asp73insGlu
ENST00000375551.7:c.216_218dup (F10) ENSP00000364701.3:p.Glu72_Asp73insGlu
ENST00000375559.7:c.216_218dup (F10) ENSP00000364709.3:p.Glu72_Asp73insGlu
ENST00000409306.5:c.216_218dup (F10) ENSP00000387092.1:p.Glu72_Asp73insGlu
ENST00000410083.6:c.216_218dup (F10) ENSP00000386320.2:p.Glu72_Asp73insGlu
ENST00000477269.5:n.253_255dup (F10)
ENST00000483537.1:n.236_238dup (F10)
NM_000504.3:c.216_218dup , LRG_548t1:c.216_218dup (F10) NP_000495.1:p.Glu72_Asp73insGlu
NM_001312674.1:c.216_218dup (F10) NP_001299603.1:p.Glu72_Asp73insGlu
NM_001312675.1:c.216_218dup (F10) NP_001299604.1:p.Glu72_Asp73insGlu
NR_126424.1:n.41+409_41+411dup (F10-AS1)
NM_000504.4:c.216_218dup (F10) MANE Select NP_000495.1:p.Glu72_Asp73insGlu
NM_001312674.2:c.216_218dup (F10) NP_001299603.1:p.Glu72_Asp73insGlu
NM_001312675.2:c.216_218dup (F10) NP_001299604.1:p.Glu72_Asp73insGlu