Canonical Allele Identifier: CA2830535020

Gene: ANKRD50

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.124672193_124672194insCCTATTTTGAATGTGATTCTT , CM000666.2:g.124672193_124672194insCCTATTTTGAATGTGATTCTT	GRCh38
NC_000004.11:g.125593348_125593349insCCTATTTTGAATGTGATTCTT , CM000666.1:g.125593348_125593349insCCTATTTTGAATGTGATTCTT	GRCh37
NC_000004.10:g.125812798_125812799insCCTATTTTGAATGTGATTCTT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504087.6:c.1083_1084insAAGAATCACATTCAAAATAGG MANE Select	ENSP00000425658.1:p.Cys361_Arg362insLysAsnHisIleGlnAsnArg
ENST00000504087.5:c.1083_1084insAAGAATCACATTCAAAATAGG	ENSP00000425658.1:p.Cys361_Arg362insLysAsnHisIleGlnAsnArg
ENST00000515641.1:c.546_547insAAGAATCACATTCAAAATAGG	ENSP00000425355.1:p.Cys182_Arg183insLysAsnHisIleGlnAsnArg
NM_001167882.1:c.546_547insAAGAATCACATTCAAAATAGG	NP_001161354.1:p.Cys182_Arg183insLysAsnHisIleGlnAsnArg
NM_020337.2:c.1083_1084insAAGAATCACATTCAAAATAGG	NP_065070.1:p.Cys361_Arg362insLysAsnHisIleGlnAsnArg
XM_011532146.1:c.1083_1084insAAGAATCACATTCAAAATAGG	XP_011530448.1:p.Cys361_Arg362insLysAsnHisIleGlnAsnArg
XM_017008471.1:c.1083_1084insAAGAATCACATTCAAAATAGG	XP_016863960.1:p.Cys361_Arg362insLysAsnHisIleGlnAsnArg
NM_020337.3:c.1083_1084insAAGAATCACATTCAAAATAGG MANE Select	NP_065070.1:p.Cys361_Arg362insLysAsnHisIleGlnAsnArg
NM_001167882.2:c.546_547insAAGAATCACATTCAAAATAGG	NP_001161354.1:p.Cys182_Arg183insLysAsnHisIleGlnAsnArg