Canonical Allele Identifier: CA2580078780

Gene: RECQL4

Linked Data

• ClinVar Variation Id: 2001638
• ClinVar RCV Id: RCV002815603

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511960_144512152del , CM000670.2:g.144511960_144512152del	GRCh38
NC_000008.10:g.145737343_145737535del , CM000670.1:g.145737343_145737535del	GRCh37
NC_000008.9:g.145708151_145708343del	NCBI36
NG_016430.1:g.10675_10867del
NG_016430.2:g.10675_10867del

Transcript Alleles

HGVS	Amino-acid change
ENST00000617875.6:c.3228_3344del
ENST00000301323.7:c.245_361del
ENST00000529424.2:n.49+173_50-171del
ENST00000531875.2:c.474_590del
ENST00000617875.4:c.3228_3344del
ENST00000621189.4:c.2157_2273del
NM_004260.3:c.3228_3344del
XM_011517380.1:c.3303_3419del
XM_011517381.1:c.3207_3323del
XM_011517382.1:c.3111_3227del
XM_011517383.1:c.3105_3221del
XM_011517384.1:c.3030_3146del
XM_011517385.1:c.2166_2282del
XR_928366.1:n.3344_3353-171del
XR_928367.1:n.3283_3399del
XR_928368.1:n.3176_3292del
XM_011517384.3:c.3030_3146del
XM_017013991.2:c.3393_3509del
XM_017013992.2:c.3318_3434del
XM_017013993.2:c.3303_3419del
XM_017013994.2:c.3297_3413del
XM_017013995.2:c.3228_3344del
XM_017013996.2:c.3393_3509del
XM_017013997.2:c.3195_3311del
XM_017013998.1:c.3318_3434del
XM_017013999.2:c.3105_3221del
XM_017014000.1:c.2256_2372del
XM_017014001.2:c.2166_2282del
XR_001745626.2:n.3430_3439-171del
XR_001745627.2:n.3369_3485del
XR_001745628.2:n.3260_3376del
XR_001745629.2:n.3123_3239del
XR_001745630.2:n.2925_3041del
NM_004260.4:c.3228_3344del