Canonical Allele Identifier: CA612957127

Gene: NRL

Linked Data

• dbSNP Id: rs1467204253
• gnomAD v2: 14-24551787-TCAGCCCCAATGCCTCCC-T
• gnomAD v4: 14-24082578-TCAGCCCCAATGCCTCCC-T
• MyVariant Identifiers: chr14:g.24551788_24551804del (hg19) ; chr14:g.24082579_24082595del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082586_24082602del , CM000676.2:g.24082586_24082602del	GRCh38
NC_000014.8:g.24551795_24551811del , CM000676.1:g.24551795_24551811del	GRCh37
NC_000014.7:g.23621635_23621651del	NCBI36
NG_011697.1:g.7029_7045del
NG_011697.2:g.37420_37436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.254_270del MANE Select	ENSP00000454062.2:p.Gly85GlufsTer3
ENST00000396997.1:c.254_270del	ENSP00000380193.1:p.Gly85GlufsTer3
ENST00000397002.6:c.254_270del	ENSP00000380197.2:p.Gly85GlufsTer3
ENST00000561028.5:c.254_270del	ENSP00000454062.1:p.Gly85GlufsTer3
NM_006177.3:c.254_270del	NP_006168.1:p.Gly85GlufsTer3
XM_005267708.3:c.254_270del	XP_005267765.1:p.Gly85GlufsTer3
XM_005267709.3:c.254_270del	XP_005267766.1:p.Gly85GlufsTer3
XM_005267710.3:c.254_270del	XP_005267767.1:p.Gly85GlufsTer3
XM_011536801.1:c.353_369del	XP_011535103.1:p.Gly118GlufsTer3
XM_011536802.1:c.254_270del	XP_011535104.1:p.Gly85GlufsTer3
XM_011536803.1:c.254_270del	XP_011535105.1:p.Gly85GlufsTer3
XM_011536804.1:c.254_270del	XP_011535106.1:p.Gly85GlufsTer3
XM_011536805.1:c.254_270del	XP_011535107.1:p.Gly85GlufsTer3
XM_011536806.1:c.165+188_165+204del	XP_011535108.1:n.165+188_165+204del
NM_001354768.1:c.254_270del	NP_001341697.1:p.Gly85GlufsTer3
NM_001354769.1:c.254_270del	NP_001341698.1:p.Gly85GlufsTer3
NM_001354770.1:c.66+188_66+204del	NP_001341699.1:n.66+188_66+204del
NM_006177.4:c.254_270del	NP_006168.1:p.Gly85GlufsTer3
XM_011536801.2:c.560_576del	XP_011535103.2:p.Gly187GlufsTer3
XM_011536804.2:c.254_270del	XP_011535106.1:p.Gly85GlufsTer3
XM_011536805.2:c.254_270del	XP_011535107.1:p.Gly85GlufsTer3
XM_011536806.2:c.372+188_372+204del	XP_011535108.2:n.372+188_372+204del
NM_001354768.3:c.254_270del MANE Select	NP_001341697.1:p.Gly85GlufsTer3
NM_001354770.2:c.66+188_66+204del	NP_001341699.1:n.66+188_66+204del
NM_006177.5:c.254_270del	NP_006168.1:p.Gly85GlufsTer3