Canonical Allele Identifier: CA586166010

Gene: RECQL4

Linked Data

• dbSNP Id: rs1349903108
• gnomAD v2: 8-145740990-ATCG-A
• gnomAD v3: 8-144515606-ATCG-A
• gnomAD v4: 8-144515606-ATCG-A
• MyVariant Identifiers: chr8:g.145740991_145740993del (hg19) ; chr8:g.144515607_144515609del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515612_144515614del , CM000670.2:g.144515612_144515614del	GRCh38
NC_000008.10:g.145740996_145740998del , CM000670.1:g.145740996_145740998del	GRCh37
NC_000008.9:g.145711804_145711806del	NCBI36
NG_016430.1:g.7218_7220del
NG_033083.1:g.2648_2650del
NG_016430.2:g.7218_7220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.130_132del
ENST00000617875.6:c.1259-152_1259-150del MANE Select	ENSP00000482313.2:n.1259-152_1259-150del
ENST00000532846.2:c.144-152_144-150del
ENST00000617875.4:c.1259-152_1259-150del	ENSP00000482313.1:n.1259-152_1259-150del
ENST00000621189.4:c.188-152_188-150del	ENSP00000483145.1:n.188-152_188-150del
NM_004260.3:c.1259-152_1259-150del	NP_004251.3:n.1259-152_1259-150del
XM_011517380.1:c.1259-152_1259-150del	XP_011515682.1:n.1259-152_1259-150del
XM_011517381.1:c.1163-152_1163-150del	XP_011515683.1:n.1163-152_1163-150del
XM_011517382.1:c.1259-152_1259-150del	XP_011515684.1:n.1259-152_1259-150del
XM_011517383.1:c.1259-152_1259-150del	XP_011515685.1:n.1259-152_1259-150del
XM_011517384.1:c.1259-152_1259-150del	XP_011515686.1:n.1259-152_1259-150del
XM_011517385.1:c.126-156_126-154del	XP_011515687.1:n.126-156_126-154del
XR_928366.1:n.1300-152_1300-150del
XR_928367.1:n.1300-152_1300-150del
XR_928368.1:n.1302-152_1302-150del
XM_011517384.3:c.1259-152_1259-150del	XP_011515686.1:n.1259-152_1259-150del
XM_017013991.2:c.1259-152_1259-150del	XP_016869480.1:n.1259-152_1259-150del
XM_017013992.2:c.1259-152_1259-150del	XP_016869481.1:n.1259-152_1259-150del
XM_017013993.2:c.1259-152_1259-150del	XP_016869482.1:n.1259-152_1259-150del
XM_017013994.2:c.1163-152_1163-150del	XP_016869483.1:n.1163-152_1163-150del
XM_017013995.2:c.1259-152_1259-150del	XP_016869484.1:n.1259-152_1259-150del
XM_017013996.2:c.1259-152_1259-150del	XP_016869485.1:n.1259-152_1259-150del
XM_017013997.2:c.1259-152_1259-150del	XP_016869486.1:n.1259-152_1259-150del
XM_017013998.1:c.1259-152_1259-150del	XP_016869487.1:n.1259-152_1259-150del
XM_017013999.2:c.1259-152_1259-150del	XP_016869488.1:n.1259-152_1259-150del
XM_017014000.1:c.126-156_126-154del	XP_016869489.1:n.126-156_126-154del
XM_017014001.2:c.126-156_126-154del	XP_016869490.1:n.126-156_126-154del
XR_001745626.2:n.1296-152_1296-150del
XR_001745627.2:n.1296-152_1296-150del
XR_001745628.2:n.1296-152_1296-150del
XR_001745629.2:n.1296-152_1296-150del
XR_001745630.2:n.1296-152_1296-150del
NM_004260.4:c.1259-152_1259-150del MANE Select	NP_004251.4:n.1259-152_1259-150del