Canonical Allele Identifier: CA3243241
Community Standard Title: NM_001127671.2(LIFR):c.397+17_397+20del
Gene: LIFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.38527139_38527142del , CM000667.2:g.38527139_38527142del GRCh38
NC_000005.9:g.38527241_38527244del , CM000667.1:g.38527241_38527244del GRCh37
NC_000005.8:g.38562998_38563001del NCBI36
NG_011817.1:g.73268_73271del

Transcript Alleles

HGVS Amino-acid Change
NM_001127671.2:c.397+17_397+20del MANE Select NP_001121143.1:n.397+17_397+20del
ENST00000453190.7:c.397+17_397+20del MANE Select ENSP00000398368.2:n.397+17_397+20del
NM_001127671.1:c.397+17_397+20del NP_001121143.1:n.397+17_397+20del
NM_001364297.1:c.397+17_397+20del NP_001351226.1:n.397+17_397+20del
NM_001364297.2:c.397+17_397+20del NP_001351226.1:n.397+17_397+20del
NM_001364298.1:c.397+17_397+20del NP_001351227.1:n.397+17_397+20del
NM_001364298.2:c.397+17_397+20del NP_001351227.1:n.397+17_397+20del
NM_002310.5:c.397+17_397+20del NP_002301.1:n.397+17_397+20del
NM_002310.6:c.397+17_397+20del NP_002301.1:n.397+17_397+20del
ENST00000263409.8:c.397+17_397+20del ENSP00000263409.4:n.397+17_397+20del
ENST00000453190.6:c.397+17_397+20del ENSP00000398368.2:n.397+17_397+20del
ENST00000503088.1:n.560+17_560+20del
XM_011514040.1:c.397+17_397+20del XP_011512342.1:n.397+17_397+20del
XM_011514041.1:c.397+17_397+20del XP_011512343.1:n.397+17_397+20del
XM_011514042.1:c.397+17_397+20del XP_011512344.1:n.397+17_397+20del
XM_011514042.3:c.397+17_397+20del XP_011512344.1:n.397+17_397+20del
XM_017009462.1:c.451+17_451+20del XP_016864951.1:n.451+17_451+20del
XM_017009463.1:c.397+17_397+20del XP_016864952.1:n.397+17_397+20del