Canonical Allele Identifier: CA2636391080

Gene: SREBF1

Linked Data

• gnomAD v4: 17-17811645-GCTTCTTTGCTGTGAGATGACCAGGGGCCGGGATGGGGGAGGTGAGACGTGCCAGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17811652_17811706del , CM000679.2:g.17811652_17811706del	GRCh38
NC_000017.10:g.17714966_17715020del , CM000679.1:g.17714966_17715020del	GRCh37
NC_000017.9:g.17655691_17655745del	NCBI36
NG_007101.2:g.135180_135234del
NG_029029.1:g.30312_30366del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261646.11:c.*922_*976del MANE Select	ENSP00000261646.5:n.*922_*976del
ENST00000261646.10:c.*922_*976del	ENSP00000261646.5:n.*922_*976del
ENST00000395757.6:c.*55_*109del	ENSP00000379106.2:n.*55_*109del
ENST00000485080.6:c.428_482del	ENSP00000466643.1:n.428_482del
ENST00000578469.1:c.244_298del
NM_001005291.2:c.*922_*976del	NP_001005291.1:n.*922_*976del
NM_004176.4:c.*922_*976del	NP_004167.3:n.*922_*976del
XM_005256772.3:c.*922_*976del	XP_005256829.1:n.*922_*976del
XM_006721570.2:c.*922_*976del	XP_006721633.1:n.*922_*976del
XM_011523998.1:c.*922_*976del	XP_011522300.1:n.*922_*976del
XM_011523999.1:c.*922_*976del	XP_011522301.1:n.*922_*976del
XR_429821.2:n.4378_4432del
XM_024450895.1:c.*337_*391del	XP_024306663.1:n.*337_*391del
XR_002958058.1:n.3670_3724del
NM_001005291.3:c.*922_*976del	NP_001005291.1:n.*922_*976del
NM_001321096.3:c.*922_*976del	NP_001308025.1:n.*922_*976del
NM_001388385.1:c.*922_*976del	NP_001375314.1:n.*922_*976del
NM_001388386.1:c.*747_*801del	NP_001375315.1:n.*747_*801del
NM_001388387.1:c.*922_*976del	NP_001375316.1:n.*922_*976del
NM_001388388.1:c.*747_*801del	NP_001375317.1:n.*747_*801del
NM_001388389.1:c.*922_*976del	NP_001375318.1:n.*922_*976del
NM_001388390.1:c.*922_*976del	NP_001375319.1:n.*922_*976del
NM_001388391.1:c.*922_*976del	NP_001375320.1:n.*922_*976del
NM_001388392.1:c.*922_*976del	NP_001375321.1:n.*922_*976del
NM_001388393.1:c.*922_*976del	NP_001375322.1:n.*922_*976del
NM_001388394.1:c.*922_*976del	NP_001375323.1:n.*922_*976del
NM_004176.5:c.*922_*976del MANE Select	NP_004167.3:n.*922_*976del
NR_170943.1:n.4347_4401del
NR_170944.1:n.3552_3606del
NR_170945.1:n.3642_3696del
NR_170990.1:n.3498_3552del