Canonical Allele Identifier: CA2624300880

Gene: NRL

Linked Data

• gnomAD v4: 14-24082409-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082410_24082411del , CM000676.2:g.24082410_24082411del	GRCh38
NC_000014.8:g.24551619_24551620del , CM000676.1:g.24551619_24551620del	GRCh37
NC_000014.7:g.23621459_23621460del	NCBI36
NG_011697.1:g.7213_7214del
NG_011697.2:g.37604_37605del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.381+57_381+58del MANE Select	ENSP00000454062.2:n.381+57_381+58del
ENST00000396997.1:c.381+57_381+58del	ENSP00000380193.1:n.381+57_381+58del
ENST00000397002.6:c.381+57_381+58del	ENSP00000380197.2:n.381+57_381+58del
ENST00000561028.5:c.381+57_381+58del	ENSP00000454062.1:n.381+57_381+58del
NM_006177.3:c.381+57_381+58del	NP_006168.1:n.381+57_381+58del
XM_005267708.3:c.381+57_381+58del	XP_005267765.1:n.381+57_381+58del
XM_005267709.3:c.381+57_381+58del	XP_005267766.1:n.381+57_381+58del
XM_005267710.3:c.381+57_381+58del	XP_005267767.1:n.381+57_381+58del
XM_011536801.1:c.480+57_480+58del	XP_011535103.1:n.480+57_480+58del
XM_011536802.1:c.381+57_381+58del	XP_011535104.1:n.381+57_381+58del
XM_011536803.1:c.381+57_381+58del	XP_011535105.1:n.381+57_381+58del
XM_011536804.1:c.381+57_381+58del	XP_011535106.1:n.381+57_381+58del
XM_011536805.1:c.381+57_381+58del	XP_011535107.1:n.381+57_381+58del
XM_011536806.1:c.165+372_165+373del	XP_011535108.1:n.165+372_165+373del
NM_001354768.1:c.381+57_381+58del	NP_001341697.1:n.381+57_381+58del
NM_001354769.1:c.381+57_381+58del	NP_001341698.1:n.381+57_381+58del
NM_001354770.1:c.66+372_66+373del	NP_001341699.1:n.66+372_66+373del
NM_006177.4:c.381+57_381+58del	NP_006168.1:n.381+57_381+58del
XM_011536801.2:c.687+57_687+58del	XP_011535103.2:n.687+57_687+58del
XM_011536804.2:c.381+57_381+58del	XP_011535106.1:n.381+57_381+58del
XM_011536805.2:c.381+57_381+58del	XP_011535107.1:n.381+57_381+58del
XM_011536806.2:c.372+372_372+373del	XP_011535108.2:n.372+372_372+373del
NM_001354768.3:c.381+57_381+58del MANE Select	NP_001341697.1:n.381+57_381+58del
NM_001354770.2:c.66+372_66+373del	NP_001341699.1:n.66+372_66+373del
NM_006177.5:c.381+57_381+58del	NP_006168.1:n.381+57_381+58del