Canonical Allele Identifier: CA1386031

Gene: FLVCR1

Linked Data

• ClinVar Variation Id: 2827863
• ClinVar RCV Id: RCV003683790
• dbSNP Id: rs752305026
• ExAC: 1:213056695 CTTTA / C
• gnomAD v2: 1-213056695-CTTTA-C
• gnomAD v3: 1-212883353-CTTTA-C
• gnomAD v4: 1-212883353-CTTTA-C
• MyVariant Identifiers: chr1:g.213056696_213056699del (hg19) ; chr1:g.212883354_212883357del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.212883360_212883363del , CM000663.2:g.212883360_212883363del	GRCh38
NC_000001.10:g.213056702_213056705del , CM000663.1:g.213056702_213056705del	GRCh37
NC_000001.9:g.211123325_211123328del	NCBI36
NG_028131.1:g.30106_30109del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366971.9:c.1025-11_1025-8del MANE Select	ENSP00000355938.4:n.1025-11_1025-8del
ENST00000366971.8:c.1025-11_1025-8del	ENSP00000355938.4:n.1025-11_1025-8del
ENST00000419102.1:c.421-11_421-8del
ENST00000474693.1:n.250-11_250-8del
NM_014053.3:c.1025-11_1025-8del	NP_054772.1:n.1025-11_1025-8del
XM_011509446.1:c.1025-11_1025-8del	XP_011507748.1:n.1025-11_1025-8del
XR_247024.1:n.1199-11_1199-8del
XR_426771.1:n.1326-11_1326-8del
XM_011509446.3:c.1025-11_1025-8del	XP_011507748.1:n.1025-11_1025-8del
XR_247024.3:n.1199-11_1199-8del
NM_014053.4:c.1025-11_1025-8del MANE Select	NP_054772.1:n.1025-11_1025-8del