Canonical Allele Identifier: CA2664659798

Gene: EAF1-AS1 COLQ

Linked Data

• gnomAD v4: 3-15450786-GCCTGCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450787_15450793del , CM000665.2:g.15450787_15450793del	GRCh38
NC_000003.11:g.15492294_15492300del , CM000665.1:g.15492294_15492300del	GRCh37
NC_000003.10:g.15467298_15467304del	NCBI36
NG_009032.1:g.75959_75965del
NG_009032.2:g.75959_75965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+652_398+658del (EAF1-AS1)
ENST00000626521.1:n.55+652_55+658del (EAF1-AS1)
ENST00000629729.3:c.414+652_414+658del	ENSP00000518887.1:n.414+652_414+658del
ENST00000383788.10:c.*851_*857del (COLQ) MANE Select	ENSP00000373298.3:n.*851_*857del
ENST00000679838.1:c.*1981_*1987del (COLQ)	ENSP00000505708.1:n.*1981_*1987del
ENST00000680545.1:n.1985_1991del (COLQ)
ENST00000680897.1:n.1684_1690del (COLQ)
ENST00000681097.1:c.*1233_*1239del (COLQ)	ENSP00000505397.1:n.*1233_*1239del
ENST00000681222.1:n.5710_5716del (COLQ)
ENST00000383781.8:c.*851_*857del (COLQ)	ENSP00000373291.3:n.*851_*857del
ENST00000383788.9:c.*851_*857del (COLQ)	ENSP00000373298.3:n.*851_*857del
ENST00000603752.1:n.87_93del (COLQ)
NM_005677.3:c.*851_*857del (COLQ)	NP_005668.2:n.*851_*857del
NM_080538.2:c.*851_*857del (COLQ)	NP_536799.1:n.*851_*857del
NM_080539.3:c.*851_*857del (COLQ)	NP_536800.2:n.*851_*857del
NM_005677.4:c.*851_*857del (COLQ) MANE Select	NP_005668.2:n.*851_*857del
NM_080539.4:c.*851_*857del (COLQ)	NP_536800.2:n.*851_*857del