Canonical Allele Identifier: CA3253937058

Gene: BCHE

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830095_165830096del , CM000665.2:g.165830095_165830096del	GRCh38
NC_000003.11:g.165547883_165547884del , CM000665.1:g.165547883_165547884del	GRCh37
NC_000003.10:g.167030577_167030578del	NCBI36
NG_009031.1:g.12370_12371del

Transcript Alleles

HGVS	Amino-acid Change
NM_000055.4:c.938_939del MANE Select	NP_000046.1:p.Pro313LeufsTer12
ENST00000264381.8:c.938_939del MANE Select	ENSP00000264381.3:p.Pro313LeufsTer12
NM_000055.2:c.938_939del	NP_000046.1:p.Pro313LeufsTer12
NM_000055.3:c.938_939del	NP_000046.1:p.Pro313LeufsTer12
NR_137635.1:n.159+7218_159+7219del
NR_137635.2:n.110+7218_110+7219del
NR_137636.1:n.1105_1106del
NR_137636.2:n.1056_1057del
ENST00000264381.7:c.938_939del	ENSP00000264381.3:p.Pro313LeufsTer12
ENST00000479451.5:c.107+7218_107+7219del	ENSP00000418325.1:n.107+7218_107+7219del
ENST00000482958.1:c.938_939del	ENSP00000419804.1:p.Pro313LeufsTer12
ENST00000488954.1:c.107+7218_107+7219del	ENSP00000418504.1:n.107+7218_107+7219del
ENST00000497011.5:c.938_939del	ENSP00000419505.1:p.Pro313LeufsTer12
XM_005247685.1:c.1061_1062del	XP_005247742.1:p.Pro354LeufsTer12