Canonical Allele Identifier: CA613319203

Gene: NRL

Linked Data

• dbSNP Id: rs1422511274
• gnomAD v2: 14-24552009-CAA-C
• gnomAD v4: 14-24082800-CAA-C
• MyVariant Identifiers: chr14:g.24552010_24552011del (hg19) ; chr14:g.24082801_24082802del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082802_24082803del , CM000676.2:g.24082802_24082803del	GRCh38
NC_000014.8:g.24552011_24552012del , CM000676.1:g.24552011_24552012del	GRCh37
NC_000014.7:g.23621851_23621852del	NCBI36
NG_011697.1:g.6822_6823del
NG_011697.2:g.37213_37214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.47_48del MANE Select	ENSP00000454062.2:p.Phe16Ter
ENST00000396997.1:c.47_48del	ENSP00000380193.1:p.Phe16Ter
ENST00000397002.6:c.47_48del	ENSP00000380197.2:p.Phe16Ter
ENST00000558280.1:c.47_48del	ENSP00000454180.1:p.Phe16Ter
ENST00000561028.5:c.47_48del	ENSP00000454062.1:p.Phe16Ter
NM_006177.3:c.47_48del	NP_006168.1:p.Phe16Ter
XM_005267708.3:c.47_48del	XP_005267765.1:p.Phe16Ter
XM_005267709.3:c.47_48del	XP_005267766.1:p.Phe16Ter
XM_005267710.3:c.47_48del	XP_005267767.1:p.Phe16Ter
XM_011536801.1:c.146_147del	XP_011535103.1:p.Phe49Ter
XM_011536802.1:c.47_48del	XP_011535104.1:p.Phe16Ter
XM_011536803.1:c.47_48del	XP_011535105.1:p.Phe16Ter
XM_011536804.1:c.47_48del	XP_011535106.1:p.Phe16Ter
XM_011536805.1:c.47_48del	XP_011535107.1:p.Phe16Ter
XM_011536806.1:c.146_147del	XP_011535108.1:p.Phe49Ter
NM_001354768.1:c.47_48del	NP_001341697.1:p.Phe16Ter
NM_001354769.1:c.47_48del	NP_001341698.1:p.Phe16Ter
NM_001354770.1:c.47_48del	NP_001341699.1:p.Phe16Ter
NM_006177.4:c.47_48del	NP_006168.1:p.Phe16Ter
XM_011536801.2:c.353_354del	XP_011535103.2:p.Phe118Ter
XM_011536804.2:c.47_48del	XP_011535106.1:p.Phe16Ter
XM_011536805.2:c.47_48del	XP_011535107.1:p.Phe16Ter
XM_011536806.2:c.353_354del	XP_011535108.2:p.Phe118Ter
NM_001354768.3:c.47_48del MANE Select	NP_001341697.1:p.Phe16Ter
NM_001354770.2:c.47_48del	NP_001341699.1:p.Phe16Ter
NM_006177.5:c.47_48del	NP_006168.1:p.Phe16Ter