Canonical Allele Identifier: CA2689129482

Gene: RECQL4

Linked Data

• gnomAD v4: 8-144517588-CGCCGCGCGCTCACCGCGGGTCTCCTCCGGCGCCGCCTCCACGTCGTCCTGTAAAGGGAACGCGTCAGCCGCGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144517596_144517668del , CM000670.2:g.144517596_144517668del	GRCh38
NC_000008.10:g.145742980_145743052del , CM000670.1:g.145742980_145743052del	GRCh37
NC_000008.9:g.145713788_145713860del	NCBI36
NG_016430.1:g.5166_5238del
NG_033083.1:g.4632_4704del
NG_016430.2:g.5166_5238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617875.6:c.85-26_118+13del
ENST00000617875.4:c.85-26_118+13del
ENST00000621189.4:c.-1013_-954+13del
NM_004260.3:c.85-26_118+13del
XM_011517380.1:c.85-26_118+13del
XM_011517381.1:c.85-26_118+13del
XM_011517382.1:c.85-26_118+13del
XM_011517383.1:c.85-26_118+13del
XM_011517384.1:c.85-26_118+13del
XR_928366.1:n.126-26_159+13del
XR_928367.1:n.126-26_159+13del
XR_928368.1:n.128-26_161+13del
XM_011517384.3:c.85-26_118+13del
XM_017013991.2:c.85-26_118+13del
XM_017013992.2:c.85-26_118+13del
XM_017013993.2:c.85-26_118+13del
XM_017013994.2:c.85-26_118+13del
XM_017013995.2:c.85-26_118+13del
XM_017013996.2:c.85-26_118+13del
XM_017013997.2:c.85-26_118+13del
XM_017013998.1:c.85-26_118+13del
XM_017013999.2:c.85-26_118+13del
XR_001745626.2:n.122-26_155+13del
XR_001745627.2:n.122-26_155+13del
XR_001745628.2:n.122-26_155+13del
XR_001745629.2:n.122-26_155+13del
XR_001745630.2:n.122-26_155+13del
NM_004260.4:c.85-26_118+13del