Canonical Allele Identifier: CA2689128967

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144511891-CCTGGCCTTACTGCACTCACT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144511899_144511918del , CM000670.2:g.144511899_144511918del	GRCh38
NC_000008.10:g.145737282_145737301del , CM000670.1:g.145737282_145737301del	GRCh37
NC_000008.9:g.145708090_145708109del	NCBI36
NG_016430.1:g.10916_10935del
NG_016430.2:g.10916_10935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.3393_3393+19del
ENST00000301323.7:c.410_410+19del
ENST00000529424.2:n.50-122_50-103del
ENST00000531875.2:c.639_648+10del
ENST00000617875.4:c.3393_3393+19del
ENST00000621189.4:c.2322_2322+19del
NM_004260.3:c.3393_3393+19del
XM_011517380.1:c.3468_3468+19del
XM_011517381.1:c.3372_3372+19del
XM_011517382.1:c.3276_3276+19del
XM_011517383.1:c.3270_3270+19del
XM_011517384.1:c.3195_3195+19del
XM_011517385.1:c.2331_2331+19del
XR_928366.1:n.3353-122_3353-103del
XR_928367.1:n.3448_3448+19del
XR_928368.1:n.3341_3341+19del
XM_011517384.3:c.3195_3195+19del
XM_017013991.2:c.3558_3577del	XP_016869480.1:p.Val1187GlnfsTer28
XM_017013992.2:c.3483_3502del	XP_016869481.1:p.Val1162GlnfsTer28
XM_017013993.2:c.3468_3487del	XP_016869482.1:p.Val1157GlnfsTer28
XM_017013994.2:c.3462_3481del	XP_016869483.1:p.Val1155GlnfsTer28
XM_017013995.2:c.3393_3412del	XP_016869484.1:p.Val1132GlnfsTer28
XM_017013996.2:c.3558_3558+19del
XM_017013997.2:c.3360_3379del	XP_016869486.1:p.Val1121GlnfsTer28
XM_017013998.1:c.3483_3483+19del
XM_017013999.2:c.3270_3289del	XP_016869488.1:p.Val1091GlnfsTer28
XM_017014000.1:c.2421_2440del	XP_016869489.1:p.Val808GlnfsTer28
XM_017014001.2:c.2331_2350del	XP_016869490.1:p.Val778GlnfsTer28
XR_001745626.2:n.3439-122_3439-103del
XR_001745627.2:n.3534_3534+19del
XR_001745628.2:n.3425_3425+19del
XR_001745629.2:n.3288_3288+19del
XR_001745630.2:n.3090_3090+19del
NM_004260.4:c.3393_3393+19del