Canonical Allele Identifier: CA626591723

Gene: CA10

Linked Data

• dbSNP Id: rs67259214
• gnomAD v2: 17-49730364-A-ATT
• gnomAD v3: 17-51653003-A-ATT
• gnomAD v4: 17-51653003-A-ATT
• MyVariant Identifiers: chr17:g.49730364_49730365insTT (hg19) ; chr17:g.51653003_51653004insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.51653011_51653012dup , CM000679.2:g.51653011_51653012dup	GRCh38
NC_000017.10:g.49730372_49730373dup , CM000679.1:g.49730372_49730373dup	GRCh37
NC_000017.9:g.47085371_47085372dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000451037.7:c.561+636_561+637dup MANE Select	ENSP00000405388.2:n.561+636_561+637dup
ENST00000285273.8:c.561+636_561+637dup	ENSP00000285273.4:n.561+636_561+637dup
ENST00000442502.6:c.561+636_561+637dup	ENSP00000390666.2:n.561+636_561+637dup
ENST00000451037.6:c.561+636_561+637dup	ENSP00000405388.2:n.561+636_561+637dup
ENST00000570565.5:c.336+636_336+637dup	ENSP00000459619.1:n.336+636_336+637dup
ENST00000571371.5:c.*603+636_*603+637dup	ENSP00000461908.1:n.*603+636_*603+637dup
ENST00000571918.1:n.400+636_400+637dup
ENST00000575181.1:c.561+636_561+637dup	ENSP00000460238.1:n.561+636_561+637dup
NM_001082533.1:c.561+636_561+637dup	NP_001076002.1:n.561+636_561+637dup
NM_001082534.1:c.561+636_561+637dup	NP_001076003.1:n.561+636_561+637dup
NM_020178.4:c.561+636_561+637dup	NP_064563.1:n.561+636_561+637dup
XR_934507.1:n.401+636_401+637dup
XM_017024878.2:c.270+636_270+637dup	XP_016880367.1:n.270+636_270+637dup
NM_020178.5:c.561+636_561+637dup MANE Select	NP_064563.1:n.561+636_561+637dup
NM_001082534.2:c.561+636_561+637dup	NP_001076003.1:n.561+636_561+637dup