Canonical Allele Identifier: CA2692445

Gene: BCHE

Linked Data

• dbSNP Id: rs768705190
• ExAC: 3:165548102 T / TGGGGA
• gnomAD v2: 3-165548102-T-TGGGGA
• MyVariant Identifiers: chr3:g.165548102_165548103insGGGGA (hg19) ; chr3:g.165830314_165830315insGGGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.165830314_165830315insGGGGA , CM000665.2:g.165830314_165830315insGGGGA	GRCh38
NC_000003.11:g.165548102_165548103insGGGGA , CM000665.1:g.165548102_165548103insGGGGA	GRCh37
NC_000003.10:g.167030796_167030797insGGGGA	NCBI36
NG_009031.1:g.12151_12152insTCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264381.8:c.719_720insTCCCC MANE Select	ENSP00000264381.3:p.Ser241ProfsTer23
ENST00000264381.7:c.719_720insTCCCC	ENSP00000264381.3:p.Ser241ProfsTer23
ENST00000479451.5:c.107+6999_107+7000insTCCCC	ENSP00000418325.1:n.107+6999_107+7000insTCCCC
ENST00000482958.1:c.719_720insTCCCC	ENSP00000419804.1:p.Ser241ProfsTer23
ENST00000488954.1:c.107+6999_107+7000insTCCCC	ENSP00000418504.1:n.107+6999_107+7000insTCCCC
ENST00000497011.5:c.719_720insTCCCC	ENSP00000419505.1:p.Ser241ProfsTer23
NM_000055.2:c.719_720insTCCCC	NP_000046.1:p.Ser241ProfsTer23
XM_005247685.1:c.842_843insTCCCC	XP_005247742.1:p.Ser282ProfsTer23
NM_000055.3:c.719_720insTCCCC	NP_000046.1:p.Ser241ProfsTer23
NR_137635.1:n.159+6999_159+7000insTCCCC
NR_137636.1:n.886_887insTCCCC
NM_000055.4:c.719_720insTCCCC MANE Select	NP_000046.1:p.Ser241ProfsTer23
NR_137635.2:n.110+6999_110+7000insTCCCC
NR_137636.2:n.837_838insTCCCC