Canonical Allele Identifier: CA613319177

Gene: NRL

Linked Data

• dbSNP Id: rs1231319076
• gnomAD v2: 14-24551807-GC-G
• gnomAD v4: 14-24082598-GC-G
• MyVariant Identifiers: chr14:g.24551808del (hg19) ; chr14:g.24082599del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082603del , CM000676.2:g.24082603del	GRCh38
NC_000014.8:g.24551812del , CM000676.1:g.24551812del	GRCh37
NC_000014.7:g.23621652del	NCBI36
NG_011697.1:g.7025del
NG_011697.2:g.37416del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.250del MANE Select	ENSP00000454062.2:p.Ala84LeufsTer7
ENST00000396997.1:c.250del	ENSP00000380193.1:p.Ala84LeufsTer7
ENST00000397002.6:c.250del	ENSP00000380197.2:p.Ala84LeufsTer7
ENST00000561028.5:c.250del	ENSP00000454062.1:p.Ala84LeufsTer7
NM_006177.3:c.250del	NP_006168.1:p.Ala84LeufsTer7
XM_005267708.3:c.250del	XP_005267765.1:p.Ala84LeufsTer7
XM_005267709.3:c.250del	XP_005267766.1:p.Ala84LeufsTer7
XM_005267710.3:c.250del	XP_005267767.1:p.Ala84LeufsTer7
XM_011536801.1:c.349del	XP_011535103.1:p.Ala117LeufsTer7
XM_011536802.1:c.250del	XP_011535104.1:p.Ala84LeufsTer7
XM_011536803.1:c.250del	XP_011535105.1:p.Ala84LeufsTer7
XM_011536804.1:c.250del	XP_011535106.1:p.Ala84LeufsTer7
XM_011536805.1:c.250del	XP_011535107.1:p.Ala84LeufsTer7
XM_011536806.1:c.165+184del	XP_011535108.1:n.165+184del
NM_001354768.1:c.250del	NP_001341697.1:p.Ala84LeufsTer7
NM_001354769.1:c.250del	NP_001341698.1:p.Ala84LeufsTer7
NM_001354770.1:c.66+184del	NP_001341699.1:n.66+184del
NM_006177.4:c.250del	NP_006168.1:p.Ala84LeufsTer7
XM_011536801.2:c.556del	XP_011535103.2:p.Ala186LeufsTer7
XM_011536804.2:c.250del	XP_011535106.1:p.Ala84LeufsTer7
XM_011536805.2:c.250del	XP_011535107.1:p.Ala84LeufsTer7
XM_011536806.2:c.372+184del	XP_011535108.2:n.372+184del
NM_001354768.3:c.250del MANE Select	NP_001341697.1:p.Ala84LeufsTer7
NM_001354770.2:c.66+184del	NP_001341699.1:n.66+184del
NM_006177.5:c.250del	NP_006168.1:p.Ala84LeufsTer7