Canonical Allele Identifier: CA933503591

Gene: EEF1AKMT2

Linked Data

• dbSNP Id: rs1950248259
• gnomAD v3: 10-124749371-TGTC-T
• gnomAD v4: 10-124749371-TGTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.124749372_124749374del , CM000672.2:g.124749372_124749374del	GRCh38
NC_000010.10:g.126437941_126437943del , CM000672.1:g.126437941_126437943del	GRCh37
NC_000010.9:g.126427931_126427933del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000494792.1:c.628+11012_628+11014del
ENST00000495711.2:c.187-888_187-886del