Canonical Allele Identifier: CA1206206707

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169707427_169707429delinsGCA , CM000663.2:g.169707427_169707429delinsGCA GRCh38
NC_000001.10:g.169676568_169676570delinsGCA , CM000663.1:g.169676568_169676570delinsGCA GRCh37
NC_000001.9:g.167943192_167943194delinsGCA NCBI36
NG_016132.1:g.9274_9276delinsTGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000236147.6:c.493_495delinsTGC (SELL) MANE Select ENSP00000236147.5:p.Cys165=
ENST00000650983.1:c.532_534delinsTGC (SELL) ENSP00000498227.1:p.Cys178=
ENST00000236147.4:c.532_534delinsTGC (SELL) ENSP00000236147.4:p.Cys178=
ENST00000463108.5:n.693_695delinsTGC (SELL)
ENST00000466340.1:n.505_507delinsTGC (SELL)
ENST00000479657.5:n.245_247delinsTGC (SELL)
ENST00000498289.5:n.851+23495_851+23497delinsGCA (FIRRM)
NM_000655.4:c.532_534delinsTGC (SELL) NP_000646.2:p.Cys178=
NR_029467.1:n.461_463delinsTGC (SELL)
NM_000655.5:c.493_495delinsTGC (SELL) MANE Select NP_000646.3:p.Cys165=
NR_029467.2:n.462_464delinsTGC (SELL)