Canonical Allele Identifier: CA138178231

Gene: BICRAL

Linked Data

• dbSNP Id: rs948752519
• gnomAD v2: 6-42731025-A-AAG
• gnomAD v3: 6-42763287-A-AAG
• gnomAD v4: 6-42763287-A-AAG
• MyVariant Identifiers: chr6:g.42731025_42731026insAG (hg19) ; chr6:g.42763287_42763288insAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42763290_42763291dup , CM000668.2:g.42763290_42763291dup	GRCh38
NC_000006.11:g.42731028_42731029dup , CM000668.1:g.42731028_42731029dup	GRCh37
NC_000006.10:g.42839006_42839007dup	NCBI36
NG_054763.1:g.21333_21334dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000614467.4:c.-261+16267_-261+16268dup	ENSP00000482211.1:n.-261+16267_-261+16268dup
XR_926809.1:n.919+3356_919+3357dup
XR_926810.1:n.904+3356_904+3357dup
XR_926811.1:n.1175+3356_1175+3357dup
NM_001318819.1:c.-365+16267_-365+16268dup	NP_001305748.1:n.-365+16267_-365+16268dup
NM_001318819.2:c.-365+16267_-365+16268dup	NP_001305748.1:n.-365+16267_-365+16268dup