Canonical Allele Identifier: CA1206206685

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169707363_169707364delinsAG , CM000663.2:g.169707363_169707364delinsAG GRCh38
NC_000001.10:g.169676504_169676505delinsAG , CM000663.1:g.169676504_169676505delinsAG GRCh37
NC_000001.9:g.167943128_167943129delinsAG NCBI36
NG_016132.1:g.9339_9340delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000236147.6:c.558_559delinsCT (SELL) MANE Select ENSP00000236147.5:p.Tyr186=
ENST00000650983.1:c.597_598delinsCT (SELL) ENSP00000498227.1:p.Tyr199=
ENST00000236147.4:c.597_598delinsCT (SELL) ENSP00000236147.4:p.Tyr199=
ENST00000463108.5:n.758_759delinsCT (SELL)
ENST00000466340.1:n.570_571delinsCT (SELL)
ENST00000479657.5:n.310_311delinsCT (SELL)
ENST00000498289.5:n.851+23431_851+23432delinsAG (FIRRM)
NM_000655.4:c.597_598delinsCT (SELL) NP_000646.2:p.Tyr199=
NR_029467.1:n.526_527delinsCT (SELL)
NM_000655.5:c.558_559delinsCT (SELL) MANE Select NP_000646.3:p.Tyr186=
NR_029467.2:n.527_528delinsCT (SELL)