Canonical Allele Identifier: CA2689136185

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144515535-C-CTTTGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515535_144515536insTTTGGGG , CM000670.2:g.144515535_144515536insTTTGGGG	GRCh38
NC_000008.10:g.145740919_145740920insTTTGGGG , CM000670.1:g.145740919_145740920insTTTGGGG	GRCh37
NC_000008.9:g.145711727_145711728insTTTGGGG	NCBI36
NG_016430.1:g.7291_7292insCCCCAAA
NG_033083.1:g.2571_2572insTTTGGGG
NG_016430.2:g.7291_7292insCCCCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.203_204insCCCCAAA
ENST00000617875.6:c.1259-79_1259-78insCCCCAAA MANE Select	ENSP00000482313.2:n.1259-79_1259-78insCCCCAAA
ENST00000532846.2:c.144-79_144-78insCCCCAAA
ENST00000617875.4:c.1259-79_1259-78insCCCCAAA	ENSP00000482313.1:n.1259-79_1259-78insCCCCAAA
ENST00000621189.4:c.188-79_188-78insCCCCAAA	ENSP00000483145.1:n.188-79_188-78insCCCCAAA
NM_004260.3:c.1259-79_1259-78insCCCCAAA	NP_004251.3:n.1259-79_1259-78insCCCCAAA
XM_011517380.1:c.1259-79_1259-78insCCCCAAA	XP_011515682.1:n.1259-79_1259-78insCCCCAAA
XM_011517381.1:c.1163-79_1163-78insCCCCAAA	XP_011515683.1:n.1163-79_1163-78insCCCCAAA
XM_011517382.1:c.1259-79_1259-78insCCCCAAA	XP_011515684.1:n.1259-79_1259-78insCCCCAAA
XM_011517383.1:c.1259-79_1259-78insCCCCAAA	XP_011515685.1:n.1259-79_1259-78insCCCCAAA
XM_011517384.1:c.1259-79_1259-78insCCCCAAA	XP_011515686.1:n.1259-79_1259-78insCCCCAAA
XM_011517385.1:c.126-83_126-82insCCCCAAA	XP_011515687.1:n.126-83_126-82insCCCCAAA
XR_928366.1:n.1300-79_1300-78insCCCCAAA
XR_928367.1:n.1300-79_1300-78insCCCCAAA
XR_928368.1:n.1302-79_1302-78insCCCCAAA
XM_011517384.3:c.1259-79_1259-78insCCCCAAA	XP_011515686.1:n.1259-79_1259-78insCCCCAAA
XM_017013991.2:c.1259-79_1259-78insCCCCAAA	XP_016869480.1:n.1259-79_1259-78insCCCCAAA
XM_017013992.2:c.1259-79_1259-78insCCCCAAA	XP_016869481.1:n.1259-79_1259-78insCCCCAAA
XM_017013993.2:c.1259-79_1259-78insCCCCAAA	XP_016869482.1:n.1259-79_1259-78insCCCCAAA
XM_017013994.2:c.1163-79_1163-78insCCCCAAA	XP_016869483.1:n.1163-79_1163-78insCCCCAAA
XM_017013995.2:c.1259-79_1259-78insCCCCAAA	XP_016869484.1:n.1259-79_1259-78insCCCCAAA
XM_017013996.2:c.1259-79_1259-78insCCCCAAA	XP_016869485.1:n.1259-79_1259-78insCCCCAAA
XM_017013997.2:c.1259-79_1259-78insCCCCAAA	XP_016869486.1:n.1259-79_1259-78insCCCCAAA
XM_017013998.1:c.1259-79_1259-78insCCCCAAA	XP_016869487.1:n.1259-79_1259-78insCCCCAAA
XM_017013999.2:c.1259-79_1259-78insCCCCAAA	XP_016869488.1:n.1259-79_1259-78insCCCCAAA
XM_017014000.1:c.126-83_126-82insCCCCAAA	XP_016869489.1:n.126-83_126-82insCCCCAAA
XM_017014001.2:c.126-83_126-82insCCCCAAA	XP_016869490.1:n.126-83_126-82insCCCCAAA
XR_001745626.2:n.1296-79_1296-78insCCCCAAA
XR_001745627.2:n.1296-79_1296-78insCCCCAAA
XR_001745628.2:n.1296-79_1296-78insCCCCAAA
XR_001745629.2:n.1296-79_1296-78insCCCCAAA
XR_001745630.2:n.1296-79_1296-78insCCCCAAA
NM_004260.4:c.1259-79_1259-78insCCCCAAA MANE Select	NP_004251.4:n.1259-79_1259-78insCCCCAAA