Canonical Allele Identifier: CA931848848

Gene: BTRC

Linked Data

• dbSNP Id: rs1225447447
• gnomAD v3: 10-101554008-TTCTC-T
• gnomAD v4: 10-101554008-TTCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.101554014_101554017del , CM000672.2:g.101554014_101554017del	GRCh38
NC_000010.10:g.103313771_103313774del , CM000672.1:g.103313771_103313774del	GRCh37
NC_000010.9:g.103303761_103303764del	NCBI36
NG_009234.1:g.204947_204950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370187.8:c.*891_*894del MANE Select	ENSP00000359206.3:n.*891_*894del
ENST00000370187.7:c.*891_*894del	ENSP00000359206.3:n.*891_*894del
ENST00000393441.8:c.*891_*894del	ENSP00000377088.5:n.*891_*894del
ENST00000408038.6:c.*891_*894del	ENSP00000385339.2:n.*891_*894del
NM_001256856.1:c.*891_*894del	NP_001243785.1:n.*891_*894del
NM_003939.4:c.*891_*894del	NP_003930.1:n.*891_*894del
NM_033637.3:c.*891_*894del	NP_378663.1:n.*891_*894del
XM_005270264.2:c.*891_*894del	XP_005270321.1:n.*891_*894del
XM_006718054.2:c.*891_*894del	XP_006718117.1:n.*891_*894del
XM_011540320.1:c.*891_*894del	XP_011538622.1:n.*891_*894del
XM_011540320.2:c.*891_*894del	XP_011538622.1:n.*891_*894del
XM_017016870.1:c.*891_*894del	XP_016872359.1:n.*891_*894del
XM_017016871.1:c.*891_*894del	XP_016872360.1:n.*891_*894del
XM_017016872.1:c.*891_*894del	XP_016872361.1:n.*891_*894del
XM_017016873.2:c.*891_*894del	XP_016872362.1:n.*891_*894del
XM_017016874.1:c.*891_*894del	XP_016872363.1:n.*891_*894del
XM_024448246.1:c.*891_*894del	XP_024304014.1:n.*891_*894del
XM_024448247.1:c.*891_*894del	XP_024304015.1:n.*891_*894del
XR_001747256.1:n.3060_3063del
NM_033637.4:c.*891_*894del MANE Select	NP_378663.1:n.*891_*894del
NM_003939.5:c.*891_*894del	NP_003930.1:n.*891_*894del
NM_001256856.2:c.*891_*894del	NP_001243785.1:n.*891_*894del