Canonical Allele Identifier: CA848894007

Gene: RECQL4

Linked Data

• dbSNP Id: rs1489444333
• gnomAD v4: 8-144517667-GCCCTCAGC-G
• MyVariant Identifiers: chr8:g.145743052_145743059del (hg19) ; chr8:g.144517668_144517675del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144517673_144517680del , CM000670.2:g.144517673_144517680del	GRCh38
NC_000008.10:g.145743057_145743064del , CM000670.1:g.145743057_145743064del	GRCh37
NC_000008.9:g.145713865_145713872del	NCBI36
NG_016430.1:g.5152_5159del
NG_033083.1:g.4709_4716del
NG_016430.2:g.5152_5159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.84+26_85-33del MANE Select	ENSP00000482313.2:n.84+26_85-33del
ENST00000617875.4:c.84+26_85-33del	ENSP00000482313.1:n.84+26_85-33del
ENST00000621189.4:c.-1027_-1020del	ENSP00000483145.1:n.-1027_-1020del
NM_004260.3:c.84+26_85-33del	NP_004251.3:n.84+26_85-33del
XM_011517380.1:c.84+26_85-33del	XP_011515682.1:n.84+26_85-33del
XM_011517381.1:c.84+26_85-33del	XP_011515683.1:n.84+26_85-33del
XM_011517382.1:c.84+26_85-33del	XP_011515684.1:n.84+26_85-33del
XM_011517383.1:c.84+26_85-33del	XP_011515685.1:n.84+26_85-33del
XM_011517384.1:c.84+26_85-33del	XP_011515686.1:n.84+26_85-33del
XR_928366.1:n.125+26_126-33del
XR_928367.1:n.125+26_126-33del
XR_928368.1:n.127+26_128-33del
XM_011517384.3:c.84+26_85-33del	XP_011515686.1:n.84+26_85-33del
XM_017013991.2:c.84+26_85-33del	XP_016869480.1:n.84+26_85-33del
XM_017013992.2:c.84+26_85-33del	XP_016869481.1:n.84+26_85-33del
XM_017013993.2:c.84+26_85-33del	XP_016869482.1:n.84+26_85-33del
XM_017013994.2:c.84+26_85-33del	XP_016869483.1:n.84+26_85-33del
XM_017013995.2:c.84+26_85-33del	XP_016869484.1:n.84+26_85-33del
XM_017013996.2:c.84+26_85-33del	XP_016869485.1:n.84+26_85-33del
XM_017013997.2:c.84+26_85-33del	XP_016869486.1:n.84+26_85-33del
XM_017013998.1:c.84+26_85-33del	XP_016869487.1:n.84+26_85-33del
XM_017013999.2:c.84+26_85-33del	XP_016869488.1:n.84+26_85-33del
XR_001745626.2:n.121+26_122-33del
XR_001745627.2:n.121+26_122-33del
XR_001745628.2:n.121+26_122-33del
XR_001745629.2:n.121+26_122-33del
XR_001745630.2:n.121+26_122-33del
NM_004260.4:c.84+26_85-33del MANE Select	NP_004251.4:n.84+26_85-33del