Canonical Allele Identifier: CA2624297543

Gene: NRL

Linked Data

• gnomAD v4: 14-24081236-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081237_24081238del , CM000676.2:g.24081237_24081238del	GRCh38
NC_000014.8:g.24550446_24550447del , CM000676.1:g.24550446_24550447del	GRCh37
NC_000014.7:g.23620286_23620287del	NCBI36
NG_011697.1:g.8386_8387del
NG_011697.2:g.38777_38778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.712_713del MANE Select	ENSP00000454062.2:p.Ter238SerextTer9
ENST00000396995.1:c.295_296del	ENSP00000380191.1:p.Ter99SerextTer9
ENST00000396997.1:c.712_713del	ENSP00000380193.1:p.Ter238SerextTer9
ENST00000397002.6:c.712_713del	ENSP00000380197.2:p.Ter238SerextTer9
ENST00000560550.1:c.295_296del	ENSP00000452966.1:p.Ter99SerextTer9
ENST00000561028.5:c.712_713del	ENSP00000454062.1:p.Ter238SerextTer9
NM_006177.3:c.712_713del	NP_006168.1:p.Ter238SerextTer9
XM_005267708.3:c.712_713del	XP_005267765.1:p.Ter238SerextTer9
XM_005267709.3:c.712_713del	XP_005267766.1:p.Ter238SerextTer9
XM_005267710.3:c.712_713del	XP_005267767.1:p.Ter238SerextTer9
XM_011536801.1:c.811_812del	XP_011535103.1:p.Ter271SerextTer9
XM_011536802.1:c.712_713del	XP_011535104.1:p.Ter238SerextTer9
XM_011536803.1:c.712_713del	XP_011535105.1:p.Ter238SerextTer9
XM_011536804.1:c.712_713del	XP_011535106.1:p.Ter238SerextTer9
XM_011536805.1:c.712_713del	XP_011535107.1:p.Ter238SerextTer9
XM_011536806.1:c.496_497del	XP_011535108.1:p.Ter166SerextTer9
NM_001354768.1:c.712_713del	NP_001341697.1:p.Ter238SerextTer9
NM_001354769.1:c.712_713del	NP_001341698.1:p.Ter238SerextTer9
NM_001354770.1:c.397_398del	NP_001341699.1:p.Ter133SerextTer9
NM_006177.4:c.712_713del	NP_006168.1:p.Ter238SerextTer9
XM_011536801.2:c.1018_1019del	XP_011535103.2:p.Ter340SerextTer9
XM_011536804.2:c.712_713del	XP_011535106.1:p.Ter238SerextTer9
XM_011536805.2:c.712_713del	XP_011535107.1:p.Ter238SerextTer9
XM_011536806.2:c.703_704del	XP_011535108.2:p.Ter235SerextTer9
NM_001354768.3:c.712_713del MANE Select	NP_001341697.1:p.Ter238SerextTer9
NM_001354770.2:c.397_398del	NP_001341699.1:p.Ter133SerextTer9
NM_006177.5:c.712_713del	NP_006168.1:p.Ter238SerextTer9