Canonical Allele Identifier: CA626783282

Gene: CA4

Linked Data

• dbSNP Id: rs1411229813
• gnomAD v2: 17-58227503-G-GC
• gnomAD v4: 17-60150142-G-GC
• MyVariant Identifiers: chr17:g.58227503_58227504insC (hg19) ; chr17:g.60150142_60150143insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60150147dup , CM000679.2:g.60150147dup	GRCh38
NC_000017.10:g.58227508dup , CM000679.1:g.58227508dup	GRCh37
NC_000017.9:g.55582290dup	NCBI36
NG_012050.1:g.5207dup
NG_012050.2:g.5207dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.58+55dup MANE Select	ENSP00000300900.3:n.58+55dup
ENST00000300900.8:c.58+55dup	ENSP00000300900.3:n.58+55dup
ENST00000585705.5:n.151+55dup
ENST00000586876.1:c.58+55dup	ENSP00000467465.1:n.58+55dup
ENST00000591725.1:c.-301+55dup	ENSP00000466964.1:n.-301+55dup
NM_000717.3:c.58+55dup	NP_000708.1:n.58+55dup
XM_005257639.1:c.58+55dup	XP_005257696.1:n.58+55dup
NM_000717.4:c.58+55dup	NP_000708.1:n.58+55dup
NR_137422.1:n.157+55dup
XM_005257639.3:c.58+55dup	XP_005257696.1:n.58+55dup
XR_001752604.2:n.151+55dup
XR_001752605.2:n.151+55dup
XR_001752606.2:n.151+55dup
XR_001752607.2:n.151+55dup
XR_001752608.2:n.151+55dup
XR_001752609.2:n.151+55dup
XR_001752610.2:n.151+55dup
NM_000717.5:c.58+55dup MANE Select	NP_000708.1:n.58+55dup
NR_137422.2:n.120+55dup