Canonical Allele Identifier: CA557054729

Gene: CYP4V2

Linked Data

• gnomAD v2: 4-187129739-TATTTGATGGGTATTTAGCATCCCCTGCCTTGGTCCACGTGTTTTTCTTTGAAGGGTATTTGATGGGTATTTAGCATCCAGTACCTTGATCCACATGTTCTTCTTTGATGGGC-T
• gnomAD v3: 4-186208585-TATTTGATGGGTATTTAGCATCCCCTGCCTTGGTCCACGTGTTTTTCTTTGAAGGGTATTTGATGGGTATTTAGCATCCAGTACCTTGATCCACATGTTCTTCTTTGATGGGC-T
• gnomAD v4: 4-186208585-TATTTGATGGGTATTTAGCATCCCCTGCCTTGGTCCACGTGTTTTTCTTTGAAGGGTATTTGATGGGTATTTAGCATCCAGTACCTTGATCCACATGTTCTTCTTTGATGGGC-T
• MyVariant Identifiers: chr4:g.187129740_187129851del (hg19) ; chr4:g.186208586_186208697del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.186208617_186208728del , CM000666.2:g.186208617_186208728del	GRCh38
NC_000004.11:g.187129771_187129882del , CM000666.1:g.187129771_187129882del	GRCh37
NC_000004.10:g.187366765_187366876del	NCBI36
NG_007965.1:g.22098_22209del
NG_012095.2:g.4639_4750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378802.5:c.1091-248_1091-137del MANE Select	ENSP00000368079.4:n.1091-248_1091-137del
ENST00000378802.4:c.1091-248_1091-137del	ENSP00000368079.4:n.1091-248_1091-137del
ENST00000502665.1:n.326-248_326-137del
ENST00000507209.5:n.5789-248_5789-137del
ENST00000513354.5:n.181-248_181-137del
NM_207352.3:c.1091-248_1091-137del	NP_997235.3:n.1091-248_1091-137del
XM_005262935.2:c.1091-248_1091-137del	XP_005262992.1:n.1091-248_1091-137del
XM_006714184.2:c.695-248_695-137del	XP_006714247.1:n.695-248_695-137del
XM_005262935.4:c.1091-248_1091-137del	XP_005262992.1:n.1091-248_1091-137del
XM_017008037.1:c.695-248_695-137del	XP_016863526.1:n.695-248_695-137del
NM_207352.4:c.1091-248_1091-137del MANE Select	NP_997235.3:n.1091-248_1091-137del