Canonical Allele Identifier: CA7122878

Gene: NRL

Linked Data

• dbSNP Id: rs773650635
• ExAC: 14:24551703 CTG / C
• gnomAD v2: 14-24551703-CTG-C
• gnomAD v3: 14-24082494-CTG-C
• gnomAD v4: 14-24082494-CTG-C
• MyVariant Identifiers: chr14:g.24551704_24551705del (hg19) ; chr14:g.24082495_24082496del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082495_24082496del , CM000676.2:g.24082495_24082496del	GRCh38
NC_000014.8:g.24551704_24551705del , CM000676.1:g.24551704_24551705del	GRCh37
NC_000014.7:g.23621544_23621545del	NCBI36
NG_011697.1:g.7128_7129del
NG_011697.2:g.37519_37520del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.353_354del MANE Select	ENSP00000454062.2:p.Pro118ArgfsTer?
ENST00000396997.1:c.353_354del	ENSP00000380193.1:p.Pro118ArgfsTer?
ENST00000397002.6:c.353_354del	ENSP00000380197.2:p.Pro118ArgfsTer?
ENST00000561028.5:c.353_354del	ENSP00000454062.1:p.Pro118ArgfsTer?
NM_006177.3:c.353_354del	NP_006168.1:p.Pro118ArgfsTer?
XM_005267708.3:c.353_354del	XP_005267765.1:p.Pro118ArgfsTer?
XM_005267709.3:c.353_354del	XP_005267766.1:p.Pro118ArgfsTer?
XM_005267710.3:c.353_354del	XP_005267767.1:p.Pro118ArgfsTer?
XM_011536801.1:c.452_453del	XP_011535103.1:p.Pro151ArgfsTer?
XM_011536802.1:c.353_354del	XP_011535104.1:p.Pro118ArgfsTer?
XM_011536803.1:c.353_354del	XP_011535105.1:p.Pro118ArgfsTer?
XM_011536804.1:c.353_354del	XP_011535106.1:p.Pro118ArgfsTer?
XM_011536805.1:c.353_354del	XP_011535107.1:p.Pro118ArgfsTer?
XM_011536806.1:c.165+287_165+288del	XP_011535108.1:n.165+287_165+288del
NM_001354768.1:c.353_354del	NP_001341697.1:p.Pro118ArgfsTer?
NM_001354769.1:c.353_354del	NP_001341698.1:p.Pro118ArgfsTer?
NM_001354770.1:c.66+287_66+288del	NP_001341699.1:n.66+287_66+288del
NM_006177.4:c.353_354del	NP_006168.1:p.Pro118ArgfsTer?
XM_011536801.2:c.659_660del	XP_011535103.2:p.Pro220ArgfsTer?
XM_011536804.2:c.353_354del	XP_011535106.1:p.Pro118ArgfsTer?
XM_011536805.2:c.353_354del	XP_011535107.1:p.Pro118ArgfsTer?
XM_011536806.2:c.372+287_372+288del	XP_011535108.2:n.372+287_372+288del
NM_001354768.3:c.353_354del MANE Select	NP_001341697.1:p.Pro118ArgfsTer?
NM_001354770.2:c.66+287_66+288del	NP_001341699.1:n.66+287_66+288del
NM_006177.5:c.353_354del	NP_006168.1:p.Pro118ArgfsTer?