Canonical Allele Identifier: CA726654705

Gene: SREBF1

Linked Data

• dbSNP Id: rs1267418089
• gnomAD v3: 17-17831489-CGACA-C
• gnomAD v4: 17-17831489-CGACA-C
• MyVariant Identifiers: chr17:g.17734804_17734807del (hg19) ; chr17:g.17831490_17831493del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.17831494_17831497del , CM000679.2:g.17831494_17831497del	GRCh38
NC_000017.10:g.17734808_17734811del , CM000679.1:g.17734808_17734811del	GRCh37
NC_000017.9:g.17675533_17675536del	NCBI36
NG_029029.1:g.10519_10522del

Transcript Alleles

HGVS	Amino-acid change
ENST00000261646.11:c.91+5234_91+5237del MANE Select	ENSP00000261646.5:n.91+5234_91+5237del
ENST00000261646.10:c.91+5234_91+5237del	ENSP00000261646.5:n.91+5234_91+5237del
ENST00000395757.6:c.91+5234_91+5237del	ENSP00000379106.2:n.91+5234_91+5237del
ENST00000261646.9:c.91+5234_91+5237del	ENSP00000261646.5:n.91+5234_91+5237del
ENST00000355815.8:c.91+5234_91+5237del	ENSP00000348069.4:n.91+5234_91+5237del
NM_001005291.2:c.91+5234_91+5237del	NP_001005291.1:n.91+5234_91+5237del
NM_004176.4:c.91+5234_91+5237del	NP_004167.3:n.91+5234_91+5237del
XM_005256772.3:c.91+5234_91+5237del	XP_005256829.1:n.91+5234_91+5237del
XR_429821.2:n.291+5234_291+5237del
XM_024450893.1:c.91+5234_91+5237del	XP_024306661.1:n.91+5234_91+5237del
XM_024450894.1:c.91+5234_91+5237del	XP_024306662.1:n.91+5234_91+5237del
XM_024450895.1:c.91+5234_91+5237del	XP_024306663.1:n.91+5234_91+5237del
XR_002958058.1:n.291+5234_291+5237del
NM_001005291.3:c.91+5234_91+5237del	NP_001005291.1:n.91+5234_91+5237del
NM_001388385.1:c.91+5234_91+5237del	NP_001375314.1:n.91+5234_91+5237del
NM_001388386.1:c.91+5234_91+5237del	NP_001375315.1:n.91+5234_91+5237del
NM_001388387.1:c.91+5234_91+5237del	NP_001375316.1:n.91+5234_91+5237del
NM_001388388.1:c.91+5234_91+5237del	NP_001375317.1:n.91+5234_91+5237del
NM_001388389.1:c.91+5234_91+5237del	NP_001375318.1:n.91+5234_91+5237del
NM_001388390.1:c.91+5234_91+5237del	NP_001375319.1:n.91+5234_91+5237del
NM_001388391.1:c.91+5234_91+5237del	NP_001375320.1:n.91+5234_91+5237del
NM_001388392.1:c.91+5234_91+5237del	NP_001375321.1:n.91+5234_91+5237del
NM_001388393.1:c.91+5234_91+5237del	NP_001375322.1:n.91+5234_91+5237del
NM_001388394.1:c.91+5234_91+5237del	NP_001375323.1:n.91+5234_91+5237del
NM_004176.5:c.91+5234_91+5237del MANE Select	NP_004167.3:n.91+5234_91+5237del
NR_170943.1:n.260+5234_260+5237del
NR_170944.1:n.260+5234_260+5237del
NR_170945.1:n.260+5234_260+5237del
NR_170990.1:n.260+5234_260+5237del