Canonical Allele Identifier: CA32482712

Gene: SELE FIRRM

Linked Data

• dbSNP Id: rs753068912
• gnomAD v2: 1-169700676-CTG-C
• gnomAD v4: 1-169731535-CTG-C
• MyVariant Identifiers: chr1:g.169700677_169700678del (hg19) ; chr1:g.169731536_169731537del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169731540_169731541del , CM000663.2:g.169731540_169731541del	GRCh38
NC_000001.10:g.169700681_169700682del , CM000663.1:g.169700681_169700682del	GRCh37
NC_000001.9:g.167967305_167967306del	NCBI36
NG_012124.1:g.7543_7544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333360.12:c.529+298_529+299del (SELE) MANE Select	ENSP00000331736.7:n.529+298_529+299del
ENST00000333360.11:c.529+298_529+299del (SELE)	ENSP00000331736.7:n.529+298_529+299del
ENST00000367774.1:c.529+298_529+299del (SELE)	ENSP00000356748.1:n.529+298_529+299del
ENST00000367775.5:c.529+298_529+299del (SELE)	ENSP00000356749.1:n.529+298_529+299del
ENST00000367776.5:c.529+298_529+299del (SELE)	ENSP00000356750.1:n.529+298_529+299del
ENST00000367777.5:c.529+298_529+299del (SELE)	ENSP00000356751.1:n.529+298_529+299del
ENST00000461085.1:n.510_511del (SELE)
ENST00000498289.5:n.851+47608_851+47609del (FIRRM)
NM_000450.2:c.529+298_529+299del (SELE) MANE Select	NP_000441.2:n.529+298_529+299del