Canonical Allele Identifier: CA257868707

Gene: NRL

Linked Data

• dbSNP Id: rs762062158
• gnomAD v4: 14-24082550-TGCA-T
• MyVariant Identifiers: chr14:g.24551760_24551762del (hg19) ; chr14:g.24082551_24082553del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082556_24082558del , CM000676.2:g.24082556_24082558del	GRCh38
NC_000014.8:g.24551765_24551767del , CM000676.1:g.24551765_24551767del	GRCh37
NC_000014.7:g.23621605_23621607del	NCBI36
NG_011697.1:g.7071_7073del
NG_011697.2:g.37462_37464del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.296_298del MANE Select	ENSP00000454062.2:p.Leu99del
ENST00000396997.1:c.296_298del	ENSP00000380193.1:p.Leu99del
ENST00000397002.6:c.296_298del	ENSP00000380197.2:p.Leu99del
ENST00000561028.5:c.296_298del	ENSP00000454062.1:p.Leu99del
NM_006177.3:c.296_298del	NP_006168.1:p.Leu99del
XM_005267708.3:c.296_298del	XP_005267765.1:p.Leu99del
XM_005267709.3:c.296_298del	XP_005267766.1:p.Leu99del
XM_005267710.3:c.296_298del	XP_005267767.1:p.Leu99del
XM_011536801.1:c.395_397del	XP_011535103.1:p.Leu132del
XM_011536802.1:c.296_298del	XP_011535104.1:p.Leu99del
XM_011536803.1:c.296_298del	XP_011535105.1:p.Leu99del
XM_011536804.1:c.296_298del	XP_011535106.1:p.Leu99del
XM_011536805.1:c.296_298del	XP_011535107.1:p.Leu99del
XM_011536806.1:c.165+230_165+232del	XP_011535108.1:n.165+230_165+232del
NM_001354768.1:c.296_298del	NP_001341697.1:p.Leu99del
NM_001354769.1:c.296_298del	NP_001341698.1:p.Leu99del
NM_001354770.1:c.66+230_66+232del	NP_001341699.1:n.66+230_66+232del
NM_006177.4:c.296_298del	NP_006168.1:p.Leu99del
XM_011536801.2:c.602_604del	XP_011535103.2:p.Leu201del
XM_011536804.2:c.296_298del	XP_011535106.1:p.Leu99del
XM_011536805.2:c.296_298del	XP_011535107.1:p.Leu99del
XM_011536806.2:c.372+230_372+232del	XP_011535108.2:n.372+230_372+232del
NM_001354768.3:c.296_298del MANE Select	NP_001341697.1:p.Leu99del
NM_001354770.2:c.66+230_66+232del	NP_001341699.1:n.66+230_66+232del
NM_006177.5:c.296_298del	NP_006168.1:p.Leu99del