Canonical Allele Identifier: CA984335350

Gene: HOXB13

Linked Data

• dbSNP Id: rs2038234803
• gnomAD v3: 17-48728234-GTACTCTTCCCCGGCCGTGGGA-G
• gnomAD v4: 17-48728234-GTACTCTTCCCCGGCCGTGGGA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.48728235_48728255del , CM000679.2:g.48728235_48728255del	GRCh38
NC_000017.10:g.46805597_46805617del , CM000679.1:g.46805597_46805617del	GRCh37
NC_000017.9:g.44160596_44160616del	NCBI36
NG_033789.1:g.5495_5515del , LRG_771:g.5495_5515del

Transcript Alleles

HGVS	Amino-acid change
ENST00000290295.8:c.339_359del MANE Select	ENSP00000290295.8:p.Pro114_Tyr120del
ENST00000290295.7:c.339_359del	ENSP00000290295.7:p.Pro114_Tyr120del
NM_006361.5:c.339_359del , LRG_771t1:c.339_359del	NP_006352.2:p.Pro114_Tyr120del
NM_006361.6:c.339_359del MANE Select	NP_006352.2:p.Pro114_Tyr120del