Canonical Allele Identifier: CA2682551504

Gene: BLVRA

Linked Data

• gnomAD v4: 7-43787958-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.43787960del , CM000669.2:g.43787960del	GRCh38
NC_000007.13:g.43827559del , CM000669.1:g.43827559del	GRCh37
NC_000007.12:g.43794084del	NCBI36
NG_031876.1:g.34288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265523.9:c.69del MANE Select	ENSP00000265523.4:p.Met24Ter
ENST00000265523.8:c.69del	ENSP00000265523.4:p.Met24Ter
ENST00000402924.5:c.69del	ENSP00000385757.1:p.Met24Ter
ENST00000424330.1:c.69del	ENSP00000412005.1:p.Met24Ter
ENST00000453612.1:n.93del
NM_000712.3:c.69del	NP_000703.2:p.Met24Ter
NM_001253823.1:c.69del	NP_001240752.1:p.Met24Ter
XM_011515474.1:c.69del	XP_011513776.1:p.Met24Ter
XR_428136.2:n.265-2201del
XR_927212.1:n.265-2201del
XR_927213.1:n.265-2201del
XM_011515474.3:c.69del	XP_011513776.1:p.Met24Ter
XM_017012520.2:c.69del	XP_016868009.1:p.Met24Ter
XM_024446867.1:c.69del	XP_024302635.1:p.Met24Ter
XR_001745190.1:n.266-2201del
NM_000712.4:c.69del MANE Select	NP_000703.2:p.Met24Ter
NM_001253823.2:c.69del	NP_001240752.1:p.Met24Ter