Canonical Allele Identifier: CA2123777611

Gene: NRL

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.24081412_24081418delinsGCTTGGA , CM000676.2:g.24081412_24081418delinsGCTTGGA	GRCh38
NC_000014.8:g.24550621_24550627delinsGCTTGGA , CM000676.1:g.24550621_24550627delinsGCTTGGA	GRCh37
NC_000014.7:g.23620461_23620467delinsGCTTGGA	NCBI36
NG_011697.1:g.8206_8212delinsTCCAAGC
NG_011697.2:g.38597_38603delinsTCCAAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561028.6:c.532_538delinsTCCAAGC MANE Select	ENSP00000454062.2:p.Ser178=
ENST00000396995.1:c.115_121delinsTCCAAGC	ENSP00000380191.1:p.Ser39=
ENST00000396997.1:c.532_538delinsTCCAAGC	ENSP00000380193.1:p.Ser178=
ENST00000397002.6:c.532_538delinsTCCAAGC	ENSP00000380197.2:p.Ser178=
ENST00000560550.1:c.115_121delinsTCCAAGC	ENSP00000452966.1:p.Ser39=
ENST00000561028.5:c.532_538delinsTCCAAGC	ENSP00000454062.1:p.Ser178=
NM_006177.3:c.532_538delinsTCCAAGC	NP_006168.1:p.Ser178=
XM_005267708.3:c.532_538delinsTCCAAGC	XP_005267765.1:p.Ser178=
XM_005267709.3:c.532_538delinsTCCAAGC	XP_005267766.1:p.Ser178=
XM_005267710.3:c.532_538delinsTCCAAGC	XP_005267767.1:p.Ser178=
XM_011536801.1:c.631_637delinsTCCAAGC	XP_011535103.1:p.Ser211=
XM_011536802.1:c.532_538delinsTCCAAGC	XP_011535104.1:p.Ser178=
XM_011536803.1:c.532_538delinsTCCAAGC	XP_011535105.1:p.Ser178=
XM_011536804.1:c.532_538delinsTCCAAGC	XP_011535106.1:p.Ser178=
XM_011536805.1:c.532_538delinsTCCAAGC	XP_011535107.1:p.Ser178=
XM_011536806.1:c.316_322delinsTCCAAGC	XP_011535108.1:p.Ser106=
NM_001354768.1:c.532_538delinsTCCAAGC	NP_001341697.1:p.Ser178=
NM_001354769.1:c.532_538delinsTCCAAGC	NP_001341698.1:p.Ser178=
NM_001354770.1:c.217_223delinsTCCAAGC	NP_001341699.1:p.Ser73=
NM_006177.4:c.532_538delinsTCCAAGC	NP_006168.1:p.Ser178=
XM_011536801.2:c.838_844delinsTCCAAGC	XP_011535103.2:p.Ser280=
XM_011536804.2:c.532_538delinsTCCAAGC	XP_011535106.1:p.Ser178=
XM_011536805.2:c.532_538delinsTCCAAGC	XP_011535107.1:p.Ser178=
XM_011536806.2:c.523_529delinsTCCAAGC	XP_011535108.2:p.Ser175=
NM_001354768.3:c.532_538delinsTCCAAGC MANE Select	NP_001341697.1:p.Ser178=
NM_001354770.2:c.217_223delinsTCCAAGC	NP_001341699.1:p.Ser73=
NM_006177.5:c.532_538delinsTCCAAGC	NP_006168.1:p.Ser178=