Canonical Allele Identifier: CA9234122

Gene: KLF1

Linked Data

• dbSNP Id: rs775366293
• ExAC: 19:12997846 GAC / G
• gnomAD v2: 19-12997846-GAC-G
• MyVariant Identifiers: chr19:g.12997847_12997848del (hg19) ; chr19:g.12887033_12887034del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12887033_12887034del , CM000681.2:g.12887033_12887034del	GRCh38
NC_000019.9:g.12997847_12997848del , CM000681.1:g.12997847_12997848del	GRCh37
NC_000019.8:g.12858847_12858848del	NCBI36
NG_009292.1:g.874_875del
NG_013087.1:g.5170_5171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264834.6:c.87+20_87+21del MANE Select	ENSP00000264834.3:n.87+20_87+21del
ENST00000264834.4:c.87+20_87+21del	ENSP00000264834.3:n.87+20_87+21del
NM_006563.3:c.87+20_87+21del	NP_006554.1:n.87+20_87+21del
XM_011527642.1:c.-117+20_-117+21del	XP_011525944.1:n.-117+20_-117+21del
NM_006563.4:c.87+20_87+21del	NP_006554.1:n.87+20_87+21del
XM_011527642.2:c.-117+20_-117+21del	XP_011525944.1:n.-117+20_-117+21del
NM_006563.5:c.87+20_87+21del MANE Select	NP_006554.1:n.87+20_87+21del