Canonical Allele Identifier: CA541360311

Gene: EAF1-AS1 COLQ

Linked Data

• dbSNP Id: rs1261972011
• gnomAD v2: 3-15492254-CAG-C
• gnomAD v3: 3-15450747-CAG-C
• gnomAD v4: 3-15450747-CAG-C
• MyVariant Identifiers: chr3:g.15492255_15492256del (hg19) ; chr3:g.15450748_15450749del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450748_15450749del , CM000665.2:g.15450748_15450749del	GRCh38
NC_000003.11:g.15492255_15492256del , CM000665.1:g.15492255_15492256del	GRCh37
NC_000003.10:g.15467259_15467260del	NCBI36
NG_009032.1:g.76003_76004del
NG_009032.2:g.76003_76004del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+696_398+697del (EAF1-AS1)
ENST00000626521.1:n.55+696_55+697del (EAF1-AS1)
ENST00000629729.3:c.414+696_414+697del	ENSP00000518887.1:n.414+696_414+697del
ENST00000383788.10:c.*895_*896del (COLQ) MANE Select	ENSP00000373298.3:n.*895_*896del
ENST00000679838.1:c.*2025_*2026del (COLQ)	ENSP00000505708.1:n.*2025_*2026del
ENST00000680545.1:n.2029_2030del (COLQ)
ENST00000680897.1:n.1728_1729del (COLQ)
ENST00000681097.1:c.*1277_*1278del (COLQ)	ENSP00000505397.1:n.*1277_*1278del
ENST00000681222.1:n.5754_5755del (COLQ)
ENST00000383781.8:c.*895_*896del (COLQ)	ENSP00000373291.3:n.*895_*896del
ENST00000383788.9:c.*895_*896del (COLQ)	ENSP00000373298.3:n.*895_*896del
ENST00000603752.1:n.131_132del (COLQ)
NM_005677.3:c.*895_*896del (COLQ)	NP_005668.2:n.*895_*896del
NM_080538.2:c.*895_*896del (COLQ)	NP_536799.1:n.*895_*896del
NM_080539.3:c.*895_*896del (COLQ)	NP_536800.2:n.*895_*896del
NM_005677.4:c.*895_*896del (COLQ) MANE Select	NP_005668.2:n.*895_*896del
NM_080539.4:c.*895_*896del (COLQ)	NP_536800.2:n.*895_*896del