Canonical Allele Identifier: CA1190726879

Gene: CASQ2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.115732820_115732824delinsAAAAG , CM000663.2:g.115732820_115732824delinsAAAAG	GRCh38
NC_000001.10:g.116275441_116275445delinsAAAAG , CM000663.1:g.116275441_116275445delinsAAAAG	GRCh37
NC_000001.9:g.116076964_116076968delinsAAAAG	NCBI36
NG_008802.1:g.40982_40986delinsCTTTT , LRG_404:g.40982_40986delinsCTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000488931.2:c.330+77_330+81delinsCTTTT	ENSP00000518226.1:n.330+77_330+81delinsCTTTT
ENST00000261448.6:c.606+77_606+81delinsCTTTT MANE Select	ENSP00000261448.5:n.606+77_606+81delinsCTTTT
ENST00000261448.5:c.606+77_606+81delinsCTTTT	ENSP00000261448.5:n.606+77_606+81delinsCTTTT
ENST00000488931.1:n.27+77_27+81delinsCTTTT
NM_001232.3:c.606+77_606+81delinsCTTTT , LRG_404t1:c.606+77_606+81delinsCTTTT	NP_001223.2:n.606+77_606+81delinsCTTTT
NM_001232.4:c.606+77_606+81delinsCTTTT MANE Select	NP_001223.2:n.606+77_606+81delinsCTTTT