Canonical Allele Identifier: CA637556382

Gene: BACH1

Linked Data

• dbSNP Id: rs1158342076
• gnomAD v2: 21-30713538-AT-A
• gnomAD v3: 21-29341217-AT-A
• gnomAD v4: 21-29341217-AT-A
• MyVariant Identifiers: chr21:g.30713539del (hg19) ; chr21:g.29341218del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.29341218del , CM000683.2:g.29341218del	GRCh38
NC_000021.8:g.30713539del , CM000683.1:g.30713539del	GRCh37
NC_000021.7:g.29635410del	NCBI36
NG_029658.1:g.47320del
NG_029658.2:g.47320del

Transcript Alleles

HGVS	Amino-acid change
ENST00000286800.8:c.1777-1181del MANE Select	ENSP00000286800.3:n.1777-1181del
ENST00000286800.7:c.1777-1181del	ENSP00000286800.3:n.1777-1181del
ENST00000399921.5:c.1777-1181del	ENSP00000382805.1:n.1777-1181del
ENST00000422809.5:c.472+11525del
ENST00000468059.1:c.325+11525del
NM_001186.3:c.1777-1181del	NP_001177.1:n.1777-1181del
NM_206866.2:c.1777-1181del	NP_996749.1:n.1777-1181del
NR_027655.2:n.1956-10416del
NM_001186.4:c.1777-1181del MANE Select	NP_001177.1:n.1777-1181del
NM_206866.3:c.1777-1181del	NP_996749.1:n.1777-1181del
NR_027655.3:n.1956-10416del