Canonical Allele Identifier: CA2656993900

Gene: SREBF2

Linked Data

• gnomAD v4: 22-41880580-TTTCTGAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41880583_41880590del , CM000684.2:g.41880583_41880590del	GRCh38
NC_000022.10:g.42276587_42276594del , CM000684.1:g.42276587_42276594del	GRCh37
NC_000022.9:g.40606533_40606540del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000710853.1:c.1672-133_1672-126del	ENSP00000518526.1:n.1672-133_1672-126del
ENST00000361204.9:c.1762-133_1762-126del MANE Select	ENSP00000354476.4:n.1762-133_1762-126del
ENST00000361204.8:c.1762-133_1762-126del	ENSP00000354476.4:n.1762-133_1762-126del
ENST00000424354.5:c.1862-133_1862-126del	ENSP00000395728.1:n.1862-133_1862-126del
ENST00000612482.4:c.1772-133_1772-126del	ENSP00000484441.1:n.1772-133_1772-126del
NM_004599.3:c.1762-133_1762-126del	NP_004590.2:n.1762-133_1762-126del
NR_103834.1:n.2054-133_2054-126del
XM_006724310.1:c.1672-133_1672-126del	XP_006724373.1:n.1672-133_1672-126del
XM_011530347.1:c.1387-133_1387-126del	XP_011528649.1:n.1387-133_1387-126del
XM_006724310.3:c.1672-133_1672-126del	XP_006724373.1:n.1672-133_1672-126del
XM_011530347.2:c.1387-133_1387-126del	XP_011528649.1:n.1387-133_1387-126del
XM_017028921.2:c.1762-133_1762-126del	XP_016884410.1:n.1762-133_1762-126del
XM_017028922.2:c.1762-133_1762-126del	XP_016884411.1:n.1762-133_1762-126del
XR_001755276.2:n.1905-133_1905-126del
XR_001755277.2:n.1905-133_1905-126del
XR_001755278.2:n.2028-133_2028-126del
NM_004599.4:c.1762-133_1762-126del MANE Select	NP_004590.2:n.1762-133_1762-126del
NR_103834.2:n.2028-133_2028-126del