Canonical Allele Identifier: CA1777230110

Gene: ERLIN2

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37749844del , CM000670.2:g.37749844del	GRCh38
NC_000008.10:g.37607362del , CM000670.1:g.37607362del	GRCh37
NC_000008.9:g.37726520del	NCBI36
NG_032059.1:g.18266del

Transcript Alleles

HGVS	Amino-acid Change
NM_007175.8:c.549del MANE Select	NP_009106.1:p.Tyr183Ter
ENST00000519638.3:c.549del MANE Select	ENSP00000428112.1:p.Tyr183Ter
NM_001362878.1:c.549del	NP_001349807.1:p.Tyr183Ter
NM_001362878.2:c.549del	NP_001349807.1:p.Tyr183Ter
NM_007175.6:c.549del	NP_009106.1:p.Tyr183Ter
NM_007175.7:c.549del	NP_009106.1:p.Tyr183Ter
ENST00000276461.9:c.549del	ENSP00000276461.5:p.Tyr183Ter
ENST00000518526.5:c.420del	ENSP00000429229.1:p.Tyr140Ter
ENST00000519638.1:c.549del	ENSP00000428112.1:p.Tyr183Ter
ENST00000521644.5:c.549del	ENSP00000429621.1:p.Tyr183Ter
ENST00000521993.2:n.442del
ENST00000521993.3:n.478del
XM_005273392.1:c.549del	XP_005273449.1:p.Tyr183Ter
XM_005273392.3:c.549del	XP_005273449.1:p.Tyr183Ter
XM_006716280.1:c.303del	XP_006716343.1:p.Tyr101Ter
XM_006716280.2:c.303del	XP_006716343.1:p.Tyr101Ter
XM_024447058.1:c.549del	XP_024302826.1:p.Tyr183Ter