Canonical Allele Identifier: CA539134627

Gene: ERBB4

Linked Data

• dbSNP Id: rs1252385039
• gnomAD v2: 2-212566893-TA-T
• gnomAD v3: 2-211702168-TA-T
• gnomAD v4: 2-211702168-TA-T
• MyVariant Identifiers: chr2:g.212566894del (hg19) ; chr2:g.212566895_212566896delinsG (hg19) ; chr2:g.211702169del (hg38) ; chr2:g.211702170_211702171delinsG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.211702170del , CM000664.2:g.211702170del	GRCh38
NC_000002.11:g.212566895del , CM000664.1:g.212566895del	GRCh37
NC_000002.10:g.212275140del	NCBI36
NG_011805.1:g.841459del
NG_011805.2:g.841460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260943.11:c.1290-3del	ENSP00000260943.7:n.1290-3del
ENST00000342788.9:c.1290-3del MANE Select	ENSP00000342235.4:n.1290-3del
ENST00000402597.6:c.1212-3del	ENSP00000385565.3:n.1212-3del
ENST00000260943.10:c.1289-3del
ENST00000342788.8:c.1290-3del	ENSP00000342235.4:n.1290-3del
ENST00000402597.5:c.1113-3del	ENSP00000385565.2:n.1113-3del
ENST00000436443.5:c.1290-3del	ENSP00000403204.1:n.1290-3del
ENST00000484594.5:n.1342-3del
NM_001042599.1:c.1290-3del	NP_001036064.1:n.1290-3del
NM_005235.2:c.1290-3del	NP_005226.1:n.1290-3del
XM_005246375.1:c.1290-3del	XP_005246432.1:n.1290-3del
XM_005246376.1:c.1290-3del	XP_005246433.1:n.1290-3del
XM_005246377.1:c.1290-3del	XP_005246434.1:n.1290-3del
XM_006712364.1:c.1290-3del	XP_006712427.1:n.1290-3del
XM_005246376.3:c.1290-3del	XP_005246433.1:n.1290-3del
XM_005246377.3:c.1290-3del	XP_005246434.1:n.1290-3del
XM_006712364.3:c.1290-3del	XP_006712427.1:n.1290-3del
XM_017003577.2:c.1368-3del	XP_016859066.1:n.1368-3del
XM_017003578.2:c.1368-3del	XP_016859067.1:n.1368-3del
XM_017003579.2:c.1368-3del	XP_016859068.1:n.1368-3del
XM_017003580.2:c.1368-3del	XP_016859069.1:n.1368-3del
XM_017003581.2:c.1368-3del	XP_016859070.1:n.1368-3del
XM_017003582.1:c.669-3del	XP_016859071.1:n.669-3del
NM_005235.3:c.1290-3del MANE Select	NP_005226.1:n.1290-3del