Canonical Allele Identifier: CA541360308

Gene: EAF1-AS1 COLQ

Linked Data

• gnomAD v2: 3-15492215-TAGAG-T
• MyVariant Identifiers: chr3:g.15492216_15492219del (hg19) ; chr3:g.15450709_15450712del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.15450713_15450716del , CM000665.2:g.15450713_15450716del	GRCh38
NC_000003.11:g.15492220_15492223del , CM000665.1:g.15492220_15492223del	GRCh37
NC_000003.10:g.15467224_15467227del	NCBI36
NG_009032.1:g.76040_76043del
NG_009032.2:g.76040_76043del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000608408.2:n.398+733_398+736del (EAF1-AS1)
ENST00000626521.1:n.55+733_55+736del (EAF1-AS1)
ENST00000629729.3:c.414+733_414+736del	ENSP00000518887.1:n.414+733_414+736del
ENST00000383788.10:c.*932_*935del (COLQ) MANE Select	ENSP00000373298.3:n.*932_*935del
ENST00000679838.1:c.*2062_*2065del (COLQ)	ENSP00000505708.1:n.*2062_*2065del
ENST00000680545.1:n.2066_2069del (COLQ)
ENST00000680897.1:n.1765_1768del (COLQ)
ENST00000681097.1:c.*1314_*1317del (COLQ)	ENSP00000505397.1:n.*1314_*1317del
ENST00000681222.1:n.5791_5794del (COLQ)
ENST00000383781.8:c.*932_*935del (COLQ)	ENSP00000373291.3:n.*932_*935del
ENST00000383788.9:c.*932_*935del (COLQ)	ENSP00000373298.3:n.*932_*935del
ENST00000603752.1:n.168_171del (COLQ)
NM_005677.3:c.*932_*935del (COLQ)	NP_005668.2:n.*932_*935del
NM_080538.2:c.*932_*935del (COLQ)	NP_536799.1:n.*932_*935del
NM_080539.3:c.*932_*935del (COLQ)	NP_536800.2:n.*932_*935del
NM_005677.4:c.*932_*935del (COLQ) MANE Select	NP_005668.2:n.*932_*935del
NM_080539.4:c.*932_*935del (COLQ)	NP_536800.2:n.*932_*935del