Canonical Allele Identifier: CA2639096218

Gene: CA4

Linked Data

• gnomAD v4: 17-60150110-GGCCCCAGGTGCCCCTCGGCGGTCCCCTCCGTGCCCCCAGCTCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.60150116_60150159del , CM000679.2:g.60150116_60150159del	GRCh38
NC_000017.10:g.58227477_58227520del , CM000679.1:g.58227477_58227520del	GRCh37
NC_000017.9:g.55582259_55582302del	NCBI36
NG_012050.1:g.5176_5219del
NG_012050.2:g.5176_5219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000300900.9:c.58+24_58+67del MANE Select	ENSP00000300900.3:n.58+24_58+67del
ENST00000300900.8:c.58+24_58+67del	ENSP00000300900.3:n.58+24_58+67del
ENST00000585705.5:n.151+24_151+67del
ENST00000586876.1:c.58+24_58+67del	ENSP00000467465.1:n.58+24_58+67del
ENST00000591725.1:c.-301+24_-301+67del	ENSP00000466964.1:n.-301+24_-301+67del
NM_000717.3:c.58+24_58+67del	NP_000708.1:n.58+24_58+67del
XM_005257639.1:c.58+24_58+67del	XP_005257696.1:n.58+24_58+67del
NM_000717.4:c.58+24_58+67del	NP_000708.1:n.58+24_58+67del
NR_137422.1:n.157+24_157+67del
XM_005257639.3:c.58+24_58+67del	XP_005257696.1:n.58+24_58+67del
XR_001752604.2:n.151+24_151+67del
XR_001752605.2:n.151+24_151+67del
XR_001752606.2:n.151+24_151+67del
XR_001752607.2:n.151+24_151+67del
XR_001752608.2:n.151+24_151+67del
XR_001752609.2:n.151+24_151+67del
XR_001752610.2:n.151+24_151+67del
NM_000717.5:c.58+24_58+67del MANE Select	NP_000708.1:n.58+24_58+67del
NR_137422.2:n.120+24_120+67del