Canonical Allele Identifier: CA595635098

Gene: BTRC

Linked Data

• dbSNP Id: rs1397457297
• gnomAD v2: 10-103313351-G-GTGTC
• gnomAD v3: 10-101553594-G-GTGTC
• gnomAD v4: 10-101553594-G-GTGTC
• MyVariant Identifiers: chr10:g.103313351_103313352insTGTC (hg19) ; chr10:g.101553594_101553595insTGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101553596_101553599dup , CM000672.2:g.101553596_101553599dup	GRCh38
NC_000010.10:g.103313353_103313356dup , CM000672.1:g.103313353_103313356dup	GRCh37
NC_000010.9:g.103303343_103303346dup	NCBI36
NG_009234.1:g.204529_204532dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370187.8:c.*473_*476dup MANE Select	ENSP00000359206.3:n.*473_*476dup
ENST00000370187.7:c.*473_*476dup	ENSP00000359206.3:n.*473_*476dup
ENST00000393441.8:c.*473_*476dup	ENSP00000377088.5:n.*473_*476dup
ENST00000408038.6:c.*473_*476dup	ENSP00000385339.2:n.*473_*476dup
NM_001256856.1:c.*473_*476dup	NP_001243785.1:n.*473_*476dup
NM_003939.4:c.*473_*476dup	NP_003930.1:n.*473_*476dup
NM_033637.3:c.*473_*476dup	NP_378663.1:n.*473_*476dup
XM_005270264.2:c.*473_*476dup	XP_005270321.1:n.*473_*476dup
XM_006718054.2:c.*473_*476dup	XP_006718117.1:n.*473_*476dup
XM_011540320.1:c.*473_*476dup	XP_011538622.1:n.*473_*476dup
XM_011540320.2:c.*473_*476dup	XP_011538622.1:n.*473_*476dup
XM_017016870.1:c.*473_*476dup	XP_016872359.1:n.*473_*476dup
XM_017016871.1:c.*473_*476dup	XP_016872360.1:n.*473_*476dup
XM_017016872.1:c.*473_*476dup	XP_016872361.1:n.*473_*476dup
XM_017016873.2:c.*473_*476dup	XP_016872362.1:n.*473_*476dup
XM_017016874.1:c.*473_*476dup	XP_016872363.1:n.*473_*476dup
XM_024448246.1:c.*473_*476dup	XP_024304014.1:n.*473_*476dup
XM_024448247.1:c.*473_*476dup	XP_024304015.1:n.*473_*476dup
XR_001747256.1:n.2642_2645dup
NM_033637.4:c.*473_*476dup MANE Select	NP_378663.1:n.*473_*476dup
NM_003939.5:c.*473_*476dup	NP_003930.1:n.*473_*476dup
NM_001256856.2:c.*473_*476dup	NP_001243785.1:n.*473_*476dup