Canonical Allele Identifier: CA2819050460

Gene: SREBF2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41880764_41880765del , CM000684.2:g.41880764_41880765del	GRCh38
NC_000022.10:g.42276768_42276769del , CM000684.1:g.42276768_42276769del	GRCh37
NC_000022.9:g.40606714_40606715del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710853.1:c.1720_1721del	ENSP00000518526.1:p.Leu574GlyfsTer?
ENST00000361204.9:c.1810_1811del MANE Select	ENSP00000354476.4:p.Leu604GlyfsTer?
ENST00000361204.8:c.1810_1811del	ENSP00000354476.4:p.Leu604GlyfsTer?
ENST00000424354.5:c.1910_1911del	ENSP00000395728.1:p.Phe637TrpfsTer20
ENST00000612482.4:c.1820_1821del	ENSP00000484441.1:p.Phe607TrpfsTer20
NM_004599.3:c.1810_1811del	NP_004590.2:p.Leu604GlyfsTer?
NR_103834.1:n.2102_2103del
XM_006724310.1:c.1720_1721del	XP_006724373.1:p.Leu574GlyfsTer?
XM_011530347.1:c.1435_1436del	XP_011528649.1:p.Leu479GlyfsTer?
XM_006724310.3:c.1720_1721del	XP_006724373.1:p.Leu574GlyfsTer?
XM_011530347.2:c.1435_1436del	XP_011528649.1:p.Leu479GlyfsTer?
XM_017028921.2:c.1810_1811del	XP_016884410.1:p.Leu604GlyfsTer?
XM_017028922.2:c.1810_1811del	XP_016884411.1:p.Leu604GlyfsTer?
XR_001755276.2:n.1953_1954del
XR_001755277.2:n.1953_1954del
XR_001755278.2:n.2076_2077del
NM_004599.4:c.1810_1811del MANE Select	NP_004590.2:p.Leu604GlyfsTer?
NR_103834.2:n.2076_2077del