Canonical Allele Identifier: CA2678364171

Gene: BLTP3A

Linked Data

• gnomAD v4: 6-34856938-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.34856939del , CM000668.2:g.34856939del	GRCh38
NC_000006.11:g.34824716del , CM000668.1:g.34824716del	GRCh37
NC_000006.10:g.34932694del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000192788.6:c.1431+10del MANE Select	ENSP00000192788.5:n.1431+10del
ENST00000192788.5:c.1431+10del	ENSP00000192788.5:n.1431+10del
ENST00000452449.6:c.1431+10del	ENSP00000400628.2:n.1431+10del
NM_017754.3:c.1431+10del	NP_060224.3:n.1431+10del
XM_005249199.3:c.273+10del	XP_005249256.1:n.273+10del
XM_006715126.2:c.1431+10del	XP_006715189.1:n.1431+10del
XM_011514714.1:c.1344+10del	XP_011513016.1:n.1344+10del
XM_011514715.1:c.435+10del	XP_011513017.1:n.435+10del
NM_017754.4:c.1431+10del MANE Select	NP_060224.3:n.1431+10del