Canonical Allele Identifier: CA471511307

Gene: HABP2

Linked Data

• dbSNP Id: rs1389101357
• gnomAD v2: 10-115330654-AAACT-A
• gnomAD v3: 10-113570895-AAACT-A
• gnomAD v4: 10-113570895-AAACT-A
• MyVariant Identifiers: chr10:g.115330655_115330658del (hg19) ; chr10:g.113570896_113570899del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.113570901_113570904del , CM000672.2:g.113570901_113570904del	GRCh38
NC_000010.10:g.115330660_115330663del , CM000672.1:g.115330660_115330663del	GRCh37
NC_000010.9:g.115320650_115320653del	NCBI36
NG_008956.1:g.22883_22886del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351270.4:c.106+3376_106+3379del MANE Select	ENSP00000277903.4:n.106+3376_106+3379del
ENST00000351270.3:c.106+3376_106+3379del	ENSP00000277903.4:n.106+3376_106+3379del
ENST00000542051.5:c.28+3376_28+3379del	ENSP00000443283.1:n.28+3376_28+3379del
NM_001177660.1:c.28+3376_28+3379del	NP_001171131.1:n.28+3376_28+3379del
NM_004132.3:c.106+3376_106+3379del	NP_004123.1:n.106+3376_106+3379del
NM_001177660.2:c.28+3376_28+3379del	NP_001171131.1:n.28+3376_28+3379del
NM_004132.4:c.106+3376_106+3379del	NP_004123.1:n.106+3376_106+3379del
NM_004132.5:c.106+3376_106+3379del MANE Select	NP_004123.1:n.106+3376_106+3379del
NM_001177660.3:c.28+3376_28+3379del	NP_001171131.1:n.28+3376_28+3379del