Canonical Allele Identifier: CA731118677

Gene: FLVCR1

Linked Data

• dbSNP Id: rs1211799118
• gnomAD v3: 1-212883347-TATC-T
• gnomAD v4: 1-212883347-TATC-T
• MyVariant Identifiers: chr1:g.213056690_213056692del (hg19) ; chr1:g.212883348_212883350del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212883351_212883353del , CM000663.2:g.212883351_212883353del	GRCh38
NC_000001.10:g.213056693_213056695del , CM000663.1:g.213056693_213056695del	GRCh37
NC_000001.9:g.211123316_211123318del	NCBI36
NG_028131.1:g.30097_30099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.1025-20_1025-18del MANE Select	ENSP00000355938.4:n.1025-20_1025-18del
ENST00000366971.8:c.1025-20_1025-18del	ENSP00000355938.4:n.1025-20_1025-18del
ENST00000419102.1:c.421-20_421-18del
ENST00000474693.1:n.250-20_250-18del
NM_014053.3:c.1025-20_1025-18del	NP_054772.1:n.1025-20_1025-18del
XM_011509446.1:c.1025-20_1025-18del	XP_011507748.1:n.1025-20_1025-18del
XR_247024.1:n.1199-20_1199-18del
XR_426771.1:n.1326-20_1326-18del
XM_011509446.3:c.1025-20_1025-18del	XP_011507748.1:n.1025-20_1025-18del
XR_247024.3:n.1199-20_1199-18del
NM_014053.4:c.1025-20_1025-18del MANE Select	NP_054772.1:n.1025-20_1025-18del