Canonical Allele Identifier: CA7122859

Gene: NRL

Linked Data

• dbSNP Id: rs769382178
• ExAC: 14:24551626 GTCCTCCT / G
• gnomAD v2: 14-24551626-GTCCTCCT-G
• gnomAD v4: 14-24082417-GTCCTCCT-G
• MyVariant Identifiers: chr14:g.24551627_24551633del (hg19) ; chr14:g.24082418_24082424del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24082422_24082428del , CM000676.2:g.24082422_24082428del	GRCh38
NC_000014.8:g.24551631_24551637del , CM000676.1:g.24551631_24551637del	GRCh37
NC_000014.7:g.23621471_23621477del	NCBI36
NG_011697.1:g.7200_7206del
NG_011697.2:g.37591_37597del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.381+44_381+50del MANE Select	ENSP00000454062.2:n.381+44_381+50del
ENST00000396997.1:c.381+44_381+50del	ENSP00000380193.1:n.381+44_381+50del
ENST00000397002.6:c.381+44_381+50del	ENSP00000380197.2:n.381+44_381+50del
ENST00000561028.5:c.381+44_381+50del	ENSP00000454062.1:n.381+44_381+50del
NM_006177.3:c.381+44_381+50del	NP_006168.1:n.381+44_381+50del
XM_005267708.3:c.381+44_381+50del	XP_005267765.1:n.381+44_381+50del
XM_005267709.3:c.381+44_381+50del	XP_005267766.1:n.381+44_381+50del
XM_005267710.3:c.381+44_381+50del	XP_005267767.1:n.381+44_381+50del
XM_011536801.1:c.480+44_480+50del	XP_011535103.1:n.480+44_480+50del
XM_011536802.1:c.381+44_381+50del	XP_011535104.1:n.381+44_381+50del
XM_011536803.1:c.381+44_381+50del	XP_011535105.1:n.381+44_381+50del
XM_011536804.1:c.381+44_381+50del	XP_011535106.1:n.381+44_381+50del
XM_011536805.1:c.381+44_381+50del	XP_011535107.1:n.381+44_381+50del
XM_011536806.1:c.165+359_165+365del	XP_011535108.1:n.165+359_165+365del
NM_001354768.1:c.381+44_381+50del	NP_001341697.1:n.381+44_381+50del
NM_001354769.1:c.381+44_381+50del	NP_001341698.1:n.381+44_381+50del
NM_001354770.1:c.66+359_66+365del	NP_001341699.1:n.66+359_66+365del
NM_006177.4:c.381+44_381+50del	NP_006168.1:n.381+44_381+50del
XM_011536801.2:c.687+44_687+50del	XP_011535103.2:n.687+44_687+50del
XM_011536804.2:c.381+44_381+50del	XP_011535106.1:n.381+44_381+50del
XM_011536805.2:c.381+44_381+50del	XP_011535107.1:n.381+44_381+50del
XM_011536806.2:c.372+359_372+365del	XP_011535108.2:n.372+359_372+365del
NM_001354768.3:c.381+44_381+50del MANE Select	NP_001341697.1:n.381+44_381+50del
NM_001354770.2:c.66+359_66+365del	NP_001341699.1:n.66+359_66+365del
NM_006177.5:c.381+44_381+50del	NP_006168.1:n.381+44_381+50del