Canonical Allele Identifier: CA541360430
Gene: EAF1-AS1 HGNC NCBI
COLQ HGNC NCBI

Linked Data

dbSNP Id: rs1184540689
gnomAD v2: 3-15495251-CAA-C
gnomAD v3: 3-15453744-CAA-C
gnomAD v4: 3-15453744-CAA-C
MyVariant Identifiers: chr3:g.15495252_15495253del (hg19) chr3:g.15453745_15453746del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.15453747_15453748del , CM000665.2:g.15453747_15453748del GRCh38
NC_000003.11:g.15495254_15495255del , CM000665.1:g.15495254_15495255del GRCh37
NC_000003.10:g.15470258_15470259del NCBI36
NG_009032.1:g.73006_73007del
NG_009032.2:g.73006_73007del

Transcript Alleles

HGVS Amino-acid change
ENST00000608408.2:n.129+83_129+84del (EAF1-AS1)
ENST00000629729.3:c.145+83_145+84del ENSP00000518887.1:n.145+83_145+84del
ENST00000383788.10:c.1298+83_1298+84del (COLQ) MANE Select ENSP00000373298.3:n.1298+83_1298+84del
ENST00000604401.2:n.1154+83_1154+84del (COLQ)
ENST00000679838.1:c.*1060+83_*1060+84del (COLQ) ENSP00000505708.1:n.*1060+83_*1060+84del
ENST00000680240.1:n.1210+83_1210+84del (COLQ)
ENST00000680545.1:n.1064+83_1064+84del (COLQ)
ENST00000680897.1:n.763+83_763+84del (COLQ)
ENST00000681097.1:c.*312+83_*312+84del (COLQ) ENSP00000505397.1:n.*312+83_*312+84del
ENST00000681222.1:n.4789+83_4789+84del (COLQ)
ENST00000383781.8:c.1268+83_1268+84del (COLQ) ENSP00000373291.3:n.1268+83_1268+84del
ENST00000383786.9:c.1196+83_1196+84del (COLQ) ENSP00000373296.3:n.1196+83_1196+84del
ENST00000383788.9:c.1298+83_1298+84del (COLQ) ENSP00000373298.3:n.1298+83_1298+84del
ENST00000603808.5:c.1301+83_1301+84del (COLQ) ENSP00000474271.1:n.1301+83_1301+84del
NM_005677.3:c.1298+83_1298+84del (COLQ) NP_005668.2:n.1298+83_1298+84del
NM_080538.2:c.1268+83_1268+84del (COLQ) NP_536799.1:n.1268+83_1268+84del
NM_080539.3:c.1196+83_1196+84del (COLQ) NP_536800.2:n.1196+83_1196+84del
NM_005677.4:c.1298+83_1298+84del (COLQ) MANE Select NP_005668.2:n.1298+83_1298+84del
NM_080539.4:c.1196+83_1196+84del (COLQ) NP_536800.2:n.1196+83_1196+84del
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