Canonical Allele Identifier: CA187687817

Gene: RECQL4

Linked Data

• dbSNP Id: rs920224982
• gnomAD v2: 8-145741083-CCAAAAGAG-C
• gnomAD v3: 8-144515699-CCAAAAGAG-C
• gnomAD v4: 8-144515699-CCAAAAGAG-C
• MyVariant Identifiers: chr8:g.145741084_145741091del (hg19) ; chr8:g.144515700_144515707del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515702_144515709del , CM000670.2:g.144515702_144515709del	GRCh38
NC_000008.10:g.145741086_145741093del , CM000670.1:g.145741086_145741093del	GRCh37
NC_000008.9:g.145711894_145711901del	NCBI36
NG_016430.1:g.7120_7127del
NG_033083.1:g.2738_2745del
NG_016430.2:g.7120_7127del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.32_39del
ENST00000617875.6:c.1258+57_1258+64del MANE Select	ENSP00000482313.2:n.1258+57_1258+64del
ENST00000532846.2:c.143+57_143+64del
ENST00000617875.4:c.1258+57_1258+64del	ENSP00000482313.1:n.1258+57_1258+64del
ENST00000621189.4:c.187+57_187+64del	ENSP00000483145.1:n.187+57_187+64del
NM_004260.3:c.1258+57_1258+64del	NP_004251.3:n.1258+57_1258+64del
XM_011517380.1:c.1258+57_1258+64del	XP_011515682.1:n.1258+57_1258+64del
XM_011517381.1:c.1162+57_1162+64del	XP_011515683.1:n.1162+57_1162+64del
XM_011517382.1:c.1258+57_1258+64del	XP_011515684.1:n.1258+57_1258+64del
XM_011517383.1:c.1258+57_1258+64del	XP_011515685.1:n.1258+57_1258+64del
XM_011517384.1:c.1258+57_1258+64del	XP_011515686.1:n.1258+57_1258+64del
XM_011517385.1:c.125+57_125+64del	XP_011515687.1:n.125+57_125+64del
XR_928366.1:n.1299+57_1299+64del
XR_928367.1:n.1299+57_1299+64del
XR_928368.1:n.1301+57_1301+64del
XM_011517384.3:c.1258+57_1258+64del	XP_011515686.1:n.1258+57_1258+64del
XM_017013991.2:c.1258+57_1258+64del	XP_016869480.1:n.1258+57_1258+64del
XM_017013992.2:c.1258+57_1258+64del	XP_016869481.1:n.1258+57_1258+64del
XM_017013993.2:c.1258+57_1258+64del	XP_016869482.1:n.1258+57_1258+64del
XM_017013994.2:c.1162+57_1162+64del	XP_016869483.1:n.1162+57_1162+64del
XM_017013995.2:c.1258+57_1258+64del	XP_016869484.1:n.1258+57_1258+64del
XM_017013996.2:c.1258+57_1258+64del	XP_016869485.1:n.1258+57_1258+64del
XM_017013997.2:c.1258+57_1258+64del	XP_016869486.1:n.1258+57_1258+64del
XM_017013998.1:c.1258+57_1258+64del	XP_016869487.1:n.1258+57_1258+64del
XM_017013999.2:c.1258+57_1258+64del	XP_016869488.1:n.1258+57_1258+64del
XM_017014000.1:c.125+57_125+64del	XP_016869489.1:n.125+57_125+64del
XM_017014001.2:c.125+57_125+64del	XP_016869490.1:n.125+57_125+64del
XR_001745626.2:n.1295+57_1295+64del
XR_001745627.2:n.1295+57_1295+64del
XR_001745628.2:n.1295+57_1295+64del
XR_001745629.2:n.1295+57_1295+64del
XR_001745630.2:n.1295+57_1295+64del
NM_004260.4:c.1258+57_1258+64del MANE Select	NP_004251.4:n.1258+57_1258+64del