Canonical Allele Identifier: CA2574085290

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169707454_169707456del , CM000663.2:g.169707454_169707456del GRCh38
NC_000001.10:g.169676595_169676597del , CM000663.1:g.169676595_169676597del GRCh37
NC_000001.9:g.167943219_167943221del NCBI36
NG_016132.1:g.9247_9249del

Transcript Alleles

HGVS Amino-acid Change
ENST00000236147.6:c.473-7_473-5del (SELL) MANE Select ENSP00000236147.5:n.473-7_473-5del
ENST00000650983.1:c.512-7_512-5del (SELL) ENSP00000498227.1:n.512-7_512-5del
ENST00000236147.4:c.512-7_512-5del (SELL) ENSP00000236147.4:n.512-7_512-5del
ENST00000463108.5:n.673-7_673-5del (SELL)
ENST00000466340.1:n.485-7_485-5del (SELL)
ENST00000479657.5:n.225-7_225-5del (SELL)
ENST00000498289.5:n.851+23522_851+23524del (FIRRM)
NM_000655.4:c.512-7_512-5del (SELL) NP_000646.2:n.512-7_512-5del
NR_029467.1:n.441-7_441-5del (SELL)
NM_000655.5:c.473-7_473-5del (SELL) MANE Select NP_000646.3:n.473-7_473-5del
NR_029467.2:n.442-7_442-5del (SELL)