LDH info

Canonical Allele Identifier: CA191756
Gene: BRIP1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 185373
ClinVar RCV Id: RCV000164782
dbSNP Id: rs786202125

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61861445dup , CM000679.2:g.61861445dup GRCh38
NC_000017.10:g.59938806dup , CM000679.1:g.59938806dup GRCh37
NC_000017.9:g.57293588dup NCBI36
NG_007409.2:g.7115dup , LRG_300:g.7115dup

Transcript Alleles

HGVS Amino-acid change
NM_032043.2:c.93+2dup , LRG_300t1:c.93+2dup NP_114432.2:p.=
XM_011525332.1:c.93+2dup XP_011523634.1:p.=
XM_011525333.1:c.93+2dup XP_011523635.1:p.=
XM_011525334.1:c.93+2dup XP_011523636.1:p.=
XM_011525335.1:c.93+2dup XP_011523637.1:p.=
XM_011525336.1:c.93+2dup XP_011523638.1:p.=
XM_011525337.1:c.93+2dup XP_011523639.1:p.=
XM_011525339.1:c.93+2dup XP_011523641.1:p.=
XM_011525340.1:c.93+2dup XP_011523642.1:p.=
XM_011525341.1:c.93+2dup XP_011523643.1:p.=
XM_011525332.3:c.93+2dup XP_011523634.1:p.=
XM_011525333.3:c.93+2dup XP_011523635.1:p.=
XM_011525334.2:c.93+2dup XP_011523636.1:p.=
XM_011525335.3:c.93+2dup XP_011523637.1:p.=
XM_011525336.2:c.93+2dup XP_011523638.1:p.=
XM_011525337.2:c.93+2dup XP_011523639.1:p.=
XM_011525339.3:c.93+2dup XP_011523641.1:p.=
XM_011525340.3:c.93+2dup XP_011523642.1:p.=
XM_011525341.3:c.93+2dup XP_011523643.1:p.=
NM_032043.3:c.93+2dup VV NP_114432.2:p.=
ENST00000259008.6:c.93+2dup ENSP00000259008.2:p.=
ENST00000577598.5:n.93+2dup ENSP00000464654.1:p.=
ENST00000577913.1:c.93+2dup ENSP00000462274.1:p.=