Canonical Allele Identifier: CA2636391110

Gene: SREBF1

Linked Data

• gnomAD v4: 17-17811687-T-TGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17811690_17811691dup , CM000679.2:g.17811690_17811691dup	GRCh38
NC_000017.10:g.17715004_17715005dup , CM000679.1:g.17715004_17715005dup	GRCh37
NC_000017.9:g.17655729_17655730dup	NCBI36
NG_007101.2:g.135218_135219dup
NG_029029.1:g.30323_30324dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000261646.11:c.*933_*934dup MANE Select	ENSP00000261646.5:n.*933_*934dup
ENST00000261646.10:c.*933_*934dup	ENSP00000261646.5:n.*933_*934dup
ENST00000395757.6:c.*66_*67dup	ENSP00000379106.2:n.*66_*67dup
ENST00000485080.6:c.439_440dup	ENSP00000466643.1:n.439_440dup
ENST00000578469.1:c.255_256dup
NM_001005291.2:c.*933_*934dup	NP_001005291.1:n.*933_*934dup
NM_004176.4:c.*933_*934dup	NP_004167.3:n.*933_*934dup
XM_005256772.3:c.*933_*934dup	XP_005256829.1:n.*933_*934dup
XM_006721570.2:c.*933_*934dup	XP_006721633.1:n.*933_*934dup
XM_011523998.1:c.*933_*934dup	XP_011522300.1:n.*933_*934dup
XM_011523999.1:c.*933_*934dup	XP_011522301.1:n.*933_*934dup
XR_429821.2:n.4389_4390dup
XM_024450895.1:c.*348_*349dup	XP_024306663.1:n.*348_*349dup
XR_002958058.1:n.3681_3682dup
NM_001005291.3:c.*933_*934dup	NP_001005291.1:n.*933_*934dup
NM_001321096.3:c.*933_*934dup	NP_001308025.1:n.*933_*934dup
NM_001388385.1:c.*933_*934dup	NP_001375314.1:n.*933_*934dup
NM_001388386.1:c.*758_*759dup	NP_001375315.1:n.*758_*759dup
NM_001388387.1:c.*933_*934dup	NP_001375316.1:n.*933_*934dup
NM_001388388.1:c.*758_*759dup	NP_001375317.1:n.*758_*759dup
NM_001388389.1:c.*933_*934dup	NP_001375318.1:n.*933_*934dup
NM_001388390.1:c.*933_*934dup	NP_001375319.1:n.*933_*934dup
NM_001388391.1:c.*933_*934dup	NP_001375320.1:n.*933_*934dup
NM_001388392.1:c.*933_*934dup	NP_001375321.1:n.*933_*934dup
NM_001388393.1:c.*933_*934dup	NP_001375322.1:n.*933_*934dup
NM_001388394.1:c.*933_*934dup	NP_001375323.1:n.*933_*934dup
NM_004176.5:c.*933_*934dup MANE Select	NP_004167.3:n.*933_*934dup
NR_170943.1:n.4358_4359dup
NR_170944.1:n.3563_3564dup
NR_170945.1:n.3653_3654dup
NR_170990.1:n.3509_3510dup