Canonical Allele Identifier: CA549717996

Gene: BOD1L1

Linked Data

• dbSNP Id: rs1343474621
• gnomAD v2: 4-13597762-G-GT
• gnomAD v3: 4-13596138-G-GT
• gnomAD v4: 4-13596138-G-GT
• MyVariant Identifiers: chr4:g.13597762_13597763insT (hg19) ; chr4:g.13596138_13596139insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.13596139dup , CM000666.2:g.13596139dup	GRCh38
NC_000004.11:g.13597763dup , CM000666.1:g.13597763dup	GRCh37
NC_000004.10:g.13206861dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507943.2:c.8020-195dup	ENSP00000425492.2:n.8020-195dup
ENST00000040738.10:c.8020-195dup MANE Select	ENSP00000040738.5:n.8020-195dup
ENST00000040738.9:c.8020-195dup	ENSP00000040738.5:n.8020-195dup
NM_148894.2:c.8020-195dup	NP_683692.2:n.8020-195dup
XM_005248150.2:c.8020-195dup	XP_005248207.1:n.8020-195dup
XM_005248151.2:c.8020-195dup	XP_005248208.1:n.8020-195dup
XM_006713958.2:c.8020-195dup	XP_006714021.1:n.8020-195dup
XM_011513827.1:c.8020-195dup	XP_011512129.1:n.8020-195dup
XM_011513828.1:c.8020-195dup	XP_011512130.1:n.8020-195dup
XM_011513829.1:c.8020-195dup	XP_011512131.1:n.8020-195dup
XM_011513830.1:c.7417-195dup	XP_011512132.1:n.7417-195dup
XM_005248150.3:c.8020-195dup	XP_005248207.1:n.8020-195dup
XM_005248151.3:c.8020-195dup	XP_005248208.1:n.8020-195dup
XM_006713958.3:c.8020-195dup	XP_006714021.1:n.8020-195dup
XM_011513827.2:c.8020-195dup	XP_011512129.1:n.8020-195dup
XM_011513829.2:c.8020-195dup	XP_011512131.1:n.8020-195dup
XM_011513830.3:c.7417-195dup	XP_011512132.1:n.7417-195dup
XM_017008009.1:c.8020-195dup	XP_016863498.1:n.8020-195dup
XM_017008010.1:c.8020-195dup	XP_016863499.1:n.8020-195dup
NM_148894.3:c.8020-195dup MANE Select	NP_683692.2:n.8020-195dup