Canonical Allele Identifier: CA2123779436

Gene: NRL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082494_24082496delinsCTG , CM000676.2:g.24082494_24082496delinsCTG	GRCh38
NC_000014.8:g.24551703_24551705delinsCTG , CM000676.1:g.24551703_24551705delinsCTG	GRCh37
NC_000014.7:g.23621543_23621545delinsCTG	NCBI36
NG_011697.1:g.7128_7130delinsCAG
NG_011697.2:g.37519_37521delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.353_355delinsCAG MANE Select	ENSP00000454062.2:p.Pro118=
ENST00000396997.1:c.353_355delinsCAG	ENSP00000380193.1:p.Pro118=
ENST00000397002.6:c.353_355delinsCAG	ENSP00000380197.2:p.Pro118=
ENST00000561028.5:c.353_355delinsCAG	ENSP00000454062.1:p.Pro118=
NM_006177.3:c.353_355delinsCAG	NP_006168.1:p.Pro118=
XM_005267708.3:c.353_355delinsCAG	XP_005267765.1:p.Pro118=
XM_005267709.3:c.353_355delinsCAG	XP_005267766.1:p.Pro118=
XM_005267710.3:c.353_355delinsCAG	XP_005267767.1:p.Pro118=
XM_011536801.1:c.452_454delinsCAG	XP_011535103.1:p.Pro151=
XM_011536802.1:c.353_355delinsCAG	XP_011535104.1:p.Pro118=
XM_011536803.1:c.353_355delinsCAG	XP_011535105.1:p.Pro118=
XM_011536804.1:c.353_355delinsCAG	XP_011535106.1:p.Pro118=
XM_011536805.1:c.353_355delinsCAG	XP_011535107.1:p.Pro118=
XM_011536806.1:c.165+287_165+289delinsCAG	XP_011535108.1:n.165+287_165+289delinsCAG
NM_001354768.1:c.353_355delinsCAG	NP_001341697.1:p.Pro118=
NM_001354769.1:c.353_355delinsCAG	NP_001341698.1:p.Pro118=
NM_001354770.1:c.66+287_66+289delinsCAG	NP_001341699.1:n.66+287_66+289delinsCAG
NM_006177.4:c.353_355delinsCAG	NP_006168.1:p.Pro118=
XM_011536801.2:c.659_661delinsCAG	XP_011535103.2:p.Pro220=
XM_011536804.2:c.353_355delinsCAG	XP_011535106.1:p.Pro118=
XM_011536805.2:c.353_355delinsCAG	XP_011535107.1:p.Pro118=
XM_011536806.2:c.372+287_372+289delinsCAG	XP_011535108.2:n.372+287_372+289delinsCAG
NM_001354768.3:c.353_355delinsCAG MANE Select	NP_001341697.1:p.Pro118=
NM_001354770.2:c.66+287_66+289delinsCAG	NP_001341699.1:n.66+287_66+289delinsCAG
NM_006177.5:c.353_355delinsCAG	NP_006168.1:p.Pro118=