Canonical Allele Identifier: CA324634791

Gene: SREBF2

Linked Data

• dbSNP Id: rs960023285
• MyVariant Identifiers: chr22:g.42276669_42276670del (hg19) ; chr22:g.41880665_41880666del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.41880668_41880669del , CM000684.2:g.41880668_41880669del	GRCh38
NC_000022.10:g.42276672_42276673del , CM000684.1:g.42276672_42276673del	GRCh37
NC_000022.9:g.40606618_40606619del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710853.1:c.1672-48_1672-47del	ENSP00000518526.1:n.1672-48_1672-47del
ENST00000361204.9:c.1762-48_1762-47del MANE Select	ENSP00000354476.4:n.1762-48_1762-47del
ENST00000361204.8:c.1762-48_1762-47del	ENSP00000354476.4:n.1762-48_1762-47del
ENST00000424354.5:c.1862-48_1862-47del	ENSP00000395728.1:n.1862-48_1862-47del
ENST00000612482.4:c.1772-48_1772-47del	ENSP00000484441.1:n.1772-48_1772-47del
NM_004599.3:c.1762-48_1762-47del	NP_004590.2:n.1762-48_1762-47del
NR_103834.1:n.2054-48_2054-47del
XM_006724310.1:c.1672-48_1672-47del	XP_006724373.1:n.1672-48_1672-47del
XM_011530347.1:c.1387-48_1387-47del	XP_011528649.1:n.1387-48_1387-47del
XM_006724310.3:c.1672-48_1672-47del	XP_006724373.1:n.1672-48_1672-47del
XM_011530347.2:c.1387-48_1387-47del	XP_011528649.1:n.1387-48_1387-47del
XM_017028921.2:c.1762-48_1762-47del	XP_016884410.1:n.1762-48_1762-47del
XM_017028922.2:c.1762-48_1762-47del	XP_016884411.1:n.1762-48_1762-47del
XR_001755276.2:n.1905-48_1905-47del
XR_001755277.2:n.1905-48_1905-47del
XR_001755278.2:n.2028-48_2028-47del
NM_004599.4:c.1762-48_1762-47del MANE Select	NP_004590.2:n.1762-48_1762-47del
NR_103834.2:n.2028-48_2028-47del