Canonical Allele Identifier: CA1826368545

Gene: RECQL4

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.144515721_144515723delinsCCA , CM000670.2:g.144515721_144515723delinsCCA	GRCh38
NC_000008.10:g.145741105_145741107delinsCCA , CM000670.1:g.145741105_145741107delinsCCA	GRCh37
NC_000008.9:g.145711913_145711915delinsCCA	NCBI36
NG_016430.1:g.7104_7106delinsTGG
NG_033083.1:g.2757_2759delinsCCA
NG_016430.2:g.7104_7106delinsTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000688394.1:n.16_18delinsTGG
ENST00000617875.6:c.1258+41_1258+43delinsTGG MANE Select	ENSP00000482313.2:n.1258+41_1258+43delinsTGG
ENST00000532846.2:c.143+41_143+43delinsTGG
ENST00000617875.4:c.1258+41_1258+43delinsTGG	ENSP00000482313.1:n.1258+41_1258+43delinsTGG
ENST00000621189.4:c.187+41_187+43delinsTGG	ENSP00000483145.1:n.187+41_187+43delinsTGG
NM_004260.3:c.1258+41_1258+43delinsTGG	NP_004251.3:n.1258+41_1258+43delinsTGG
XM_011517380.1:c.1258+41_1258+43delinsTGG	XP_011515682.1:n.1258+41_1258+43delinsTGG
XM_011517381.1:c.1162+41_1162+43delinsTGG	XP_011515683.1:n.1162+41_1162+43delinsTGG
XM_011517382.1:c.1258+41_1258+43delinsTGG	XP_011515684.1:n.1258+41_1258+43delinsTGG
XM_011517383.1:c.1258+41_1258+43delinsTGG	XP_011515685.1:n.1258+41_1258+43delinsTGG
XM_011517384.1:c.1258+41_1258+43delinsTGG	XP_011515686.1:n.1258+41_1258+43delinsTGG
XM_011517385.1:c.125+41_125+43delinsTGG	XP_011515687.1:n.125+41_125+43delinsTGG
XR_928366.1:n.1299+41_1299+43delinsTGG
XR_928367.1:n.1299+41_1299+43delinsTGG
XR_928368.1:n.1301+41_1301+43delinsTGG
XM_011517384.3:c.1258+41_1258+43delinsTGG	XP_011515686.1:n.1258+41_1258+43delinsTGG
XM_017013991.2:c.1258+41_1258+43delinsTGG	XP_016869480.1:n.1258+41_1258+43delinsTGG
XM_017013992.2:c.1258+41_1258+43delinsTGG	XP_016869481.1:n.1258+41_1258+43delinsTGG
XM_017013993.2:c.1258+41_1258+43delinsTGG	XP_016869482.1:n.1258+41_1258+43delinsTGG
XM_017013994.2:c.1162+41_1162+43delinsTGG	XP_016869483.1:n.1162+41_1162+43delinsTGG
XM_017013995.2:c.1258+41_1258+43delinsTGG	XP_016869484.1:n.1258+41_1258+43delinsTGG
XM_017013996.2:c.1258+41_1258+43delinsTGG	XP_016869485.1:n.1258+41_1258+43delinsTGG
XM_017013997.2:c.1258+41_1258+43delinsTGG	XP_016869486.1:n.1258+41_1258+43delinsTGG
XM_017013998.1:c.1258+41_1258+43delinsTGG	XP_016869487.1:n.1258+41_1258+43delinsTGG
XM_017013999.2:c.1258+41_1258+43delinsTGG	XP_016869488.1:n.1258+41_1258+43delinsTGG
XM_017014000.1:c.125+41_125+43delinsTGG	XP_016869489.1:n.125+41_125+43delinsTGG
XM_017014001.2:c.125+41_125+43delinsTGG	XP_016869490.1:n.125+41_125+43delinsTGG
XR_001745626.2:n.1295+41_1295+43delinsTGG
XR_001745627.2:n.1295+41_1295+43delinsTGG
XR_001745628.2:n.1295+41_1295+43delinsTGG
XR_001745629.2:n.1295+41_1295+43delinsTGG
XR_001745630.2:n.1295+41_1295+43delinsTGG
NM_004260.4:c.1258+41_1258+43delinsTGG MANE Select	NP_004251.4:n.1258+41_1258+43delinsTGG