Canonical Allele Identifier: CA2649044323

Gene: SELL FIRRM

Linked Data

• gnomAD v4: 1-169707302-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169707303del , CM000663.2:g.169707303del	GRCh38
NC_000001.10:g.169676444del , CM000663.1:g.169676444del	GRCh37
NC_000001.9:g.167943068del	NCBI36
NG_016132.1:g.9400del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.580+39del (SELL) MANE Select	ENSP00000236147.5:n.580+39del
ENST00000650983.1:c.619+39del (SELL)	ENSP00000498227.1:n.619+39del
ENST00000236147.4:c.619+39del (SELL)	ENSP00000236147.4:n.619+39del
ENST00000463108.5:n.780+39del (SELL)
ENST00000466340.1:n.592+39del (SELL)
ENST00000479657.5:n.332+39del (SELL)
ENST00000498289.5:n.851+23371del (FIRRM)
NM_000655.4:c.619+39del (SELL)	NP_000646.2:n.619+39del
NR_029467.1:n.548+39del (SELL)
NM_000655.5:c.580+39del (SELL) MANE Select	NP_000646.3:n.580+39del
NR_029467.2:n.549+39del (SELL)