Canonical Allele Identifier: CA2668431695

Gene: BCHE

Linked Data

• gnomAD v4: 3-165830029-AAG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830030_165830031del , CM000665.2:g.165830030_165830031del	GRCh38
NC_000003.11:g.165547818_165547819del , CM000665.1:g.165547818_165547819del	GRCh37
NC_000003.10:g.167030512_167030513del	NCBI36
NG_009031.1:g.12435_12436del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.1003_1004del MANE Select	ENSP00000264381.3:p.Leu335Ter
ENST00000264381.7:c.1003_1004del	ENSP00000264381.3:p.Leu335Ter
ENST00000479451.5:c.107+7283_107+7284del	ENSP00000418325.1:n.107+7283_107+7284del
ENST00000482958.1:c.1003_1004del	ENSP00000419804.1:p.Leu335Ter
ENST00000488954.1:c.107+7283_107+7284del	ENSP00000418504.1:n.107+7283_107+7284del
ENST00000497011.5:c.1003_1004del	ENSP00000419505.1:p.Leu335Ter
NM_000055.2:c.1003_1004del	NP_000046.1:p.Leu335Ter
XM_005247685.1:c.1126_1127del	XP_005247742.1:p.Leu376Ter
NM_000055.3:c.1003_1004del	NP_000046.1:p.Leu335Ter
NR_137635.1:n.159+7283_159+7284del
NR_137636.1:n.1170_1171del
NM_000055.4:c.1003_1004del MANE Select	NP_000046.1:p.Leu335Ter
NR_137635.2:n.110+7283_110+7284del
NR_137636.2:n.1121_1122del