Canonical Allele Identifier: CA2517025424

Gene: EDNRB EDNRB-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77903261_77903272del , CM000675.2:g.77903261_77903272del	GRCh38
NC_000013.10:g.78477396_78477407del , CM000675.1:g.78477396_78477407del	GRCh37
NC_000013.9:g.77375397_77375408del	NCBI36
NG_011630.2:g.77258_77269del
NG_011630.3:g.76452_76463del

Transcript Alleles

HGVS	Amino-acid change
ENST00000475537.2:c.685_696del (EDNRB)	ENSP00000487082.2:p.Ser229_Leu232del
ENST00000643890.1:c.685_696del (EDNRB)	ENSP00000495815.1:p.Ser229_Leu232del
ENST00000645696.1:c.163_174del (EDNRB)	ENSP00000495984.1:p.Ser55_Leu58del
ENST00000646605.1:c.685_696del (EDNRB)	ENSP00000494278.1:p.Ser229_Leu232del
ENST00000646607.2:c.685_696del (EDNRB) MANE Select	ENSP00000493527.1:p.Ser229_Leu232del
ENST00000646948.1:c.685_696del (EDNRB)	ENSP00000493895.1:p.Ser229_Leu232del
ENST00000334286.7:c.685_696del (EDNRB)	ENSP00000335311.5:p.Ser229_Leu232del
ENST00000377211.8:c.955_966del (EDNRB)	ENSP00000366416.4:p.Ser319_Leu322del
ENST00000626030.1:c.685_696del (EDNRB)	ENSP00000486202.1:p.Ser229_Leu232del
NM_000115.3:c.685_696del (EDNRB)	NP_000106.1:p.Ser229_Leu232del
NM_001122659.2:c.685_696del (EDNRB)	NP_001116131.1:p.Ser229_Leu232del
NM_001201397.1:c.955_966del (EDNRB)	NP_001188326.1:p.Ser319_Leu322del
NM_003991.3:c.685_696del (EDNRB)	NP_003982.1:p.Ser229_Leu232del
NR_103853.1:n.1695-4431_1695-4420del (EDNRB-AS1)
XM_005266275.2:c.685_696del (EDNRB)	XP_005266332.2:p.Ser229_Leu232del
XM_011534949.1:c.685_696del (EDNRB)	XP_011533251.1:p.Ser229_Leu232del
NM_000115.4:c.685_696del (EDNRB)	NP_000106.1:p.Ser229_Leu232del
NM_001122659.3:c.685_696del (EDNRB) MANE Select	NP_001116131.1:p.Ser229_Leu232del
NM_000115.5:c.685_696del (EDNRB)	NP_000106.1:p.Ser229_Leu232del
NM_003991.4:c.685_696del (EDNRB)	NP_003982.1:p.Ser229_Leu232del