Canonical Allele Identifier: CA2614626118

Gene: AIP

Linked Data

• gnomAD v4: 11-67490861-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.67490863_67490864del , CM000673.2:g.67490863_67490864del	GRCh38
NC_000011.9:g.67258334_67258335del , CM000673.1:g.67258334_67258335del	GRCh37
NC_000011.8:g.67014910_67014911del	NCBI36
NG_008969.1:g.12830_12831del , LRG_460:g.12830_12831del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525341.2:c.1170_1171del
ENST00000528641.7:c.674_675del	ENSP00000434982.3:p.Phe225CysfsTer?
ENST00000529797.2:n.1705_1706del
ENST00000682324.1:c.469-134_469-133del	ENSP00000508017.1:n.469-134_469-133del
ENST00000682659.1:c.494_495del	ENSP00000507351.1:p.Phe165CysfsTer?
ENST00000682699.1:c.863_864del	ENSP00000507935.1:p.Phe288CysfsTer?
ENST00000683237.1:c.*3_*4del	ENSP00000507343.1:n.*3_*4del
ENST00000683856.1:c.686_687del	ENSP00000507979.1:p.Phe229CysfsTer?
ENST00000684006.1:c.*3_*4del	ENSP00000507269.1:n.*3_*4del
ENST00000684657.1:c.683_684del	ENSP00000507961.1:p.Phe228CysfsTer?
ENST00000279146.8:c.863_864del MANE Select	ENSP00000279146.3:p.Phe288CysfsTer?
ENST00000279146.7:c.863_864del	ENSP00000279146.3:p.Phe288CysfsTer?
ENST00000528641.6:c.674_675del	ENSP00000434982.2:p.Phe225CysfsTer?
NM_001302959.1:c.686_687del	NP_001289888.1:p.Phe229CysfsTer?
NM_001302960.1:c.*3_*4del	NP_001289889.1:n.*3_*4del
NM_003977.3:c.863_864del	NP_003968.3:p.Phe288CysfsTer?
XM_024448761.1:c.863_864del	XP_024304529.1:p.Phe288CysfsTer?
NM_003977.4:c.863_864del MANE Select	NP_003968.3:p.Phe288CysfsTer?
NM_001302960.2:c.*3_*4del	NP_001289889.1:n.*3_*4del
NM_001302959.2:c.686_687del	NP_001289888.1:p.Phe229CysfsTer?