Canonical Allele Identifier: CA9234115

Gene: KLF1

Linked Data

• dbSNP Id: rs745750465
• ExAC: 19:12997817 GTGGCCC / G
• gnomAD v2: 19-12997817-GTGGCCC-G
• gnomAD v3: 19-12887003-GTGGCCC-G
• gnomAD v4: 19-12887003-GTGGCCC-G
• MyVariant Identifiers: chr19:g.12997818_12997823del (hg19) ; chr19:g.12887004_12887009del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12887007_12887012del , CM000681.2:g.12887007_12887012del	GRCh38
NC_000019.9:g.12997821_12997826del , CM000681.1:g.12997821_12997826del	GRCh37
NC_000019.8:g.12858821_12858826del	NCBI36
NG_009292.1:g.848_853del
NG_013087.1:g.5195_5200del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264834.6:c.87+45_87+50del MANE Select	ENSP00000264834.3:n.87+45_87+50del
ENST00000264834.4:c.87+45_87+50del	ENSP00000264834.3:n.87+45_87+50del
NM_006563.3:c.87+45_87+50del	NP_006554.1:n.87+45_87+50del
XM_011527642.1:c.-117+45_-117+50del	XP_011525944.1:n.-117+45_-117+50del
NM_006563.4:c.87+45_87+50del	NP_006554.1:n.87+45_87+50del
XM_011527642.2:c.-117+45_-117+50del	XP_011525944.1:n.-117+45_-117+50del
NM_006563.5:c.87+45_87+50del MANE Select	NP_006554.1:n.87+45_87+50del