Canonical Allele Identifier: CA292200309

Gene: CA4

Linked Data

• dbSNP Id: rs1007069896
• gnomAD v2: 17-58227681-T-TG
• gnomAD v3: 17-60150320-T-TG
• gnomAD v4: 17-60150320-T-TG
• MyVariant Identifiers: chr17:g.58227681_58227682insG (hg19) ; chr17:g.60150320_60150321insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60150321dup , CM000679.2:g.60150321dup	GRCh38
NC_000017.10:g.58227682dup , CM000679.1:g.58227682dup	GRCh37
NC_000017.9:g.55582464dup	NCBI36
NG_012050.1:g.5381dup
NG_012050.2:g.5381dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.58+229dup MANE Select	ENSP00000300900.3:n.58+229dup
ENST00000300900.8:c.58+229dup	ENSP00000300900.3:n.58+229dup
ENST00000585705.5:n.151+229dup
ENST00000586876.1:c.58+229dup	ENSP00000467465.1:n.58+229dup
ENST00000591725.1:c.-301+229dup	ENSP00000466964.1:n.-301+229dup
NM_000717.3:c.58+229dup	NP_000708.1:n.58+229dup
XM_005257639.1:c.58+229dup	XP_005257696.1:n.58+229dup
NM_000717.4:c.58+229dup	NP_000708.1:n.58+229dup
NR_137422.1:n.157+229dup
XM_005257639.3:c.58+229dup	XP_005257696.1:n.58+229dup
XR_001752604.2:n.151+229dup
XR_001752605.2:n.151+229dup
XR_001752606.2:n.151+229dup
XR_001752607.2:n.151+229dup
XR_001752608.2:n.151+229dup
XR_001752609.2:n.151+229dup
XR_001752610.2:n.151+229dup
NM_000717.5:c.58+229dup MANE Select	NP_000708.1:n.58+229dup
NR_137422.2:n.120+229dup