Canonical Allele Identifier: CA342171

Gene: MLC1

Linked Data

• ClinVar Variation Id: 21523
• ClinVar RCV Id: RCV000020713
• dbSNP Id: rs1555967644
• MyVariant Identifiers: chr22:g.50518239_50518796del (hg19) ; chr22:g.50079810_50080367del (hg38)
• PubMed: PMID:20301707

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50079810_50080367del , CM000684.2:g.50079810_50080367del	GRCh38
NC_000022.10:g.50518239_50518796del , CM000684.1:g.50518239_50518796del	GRCh37
NC_000022.9:g.48860366_48860923del	NCBI36
NG_009162.1:g.10563_11120del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311597.10:c.298_423+108del
ENST00000311597.9:c.298_423+108del
ENST00000395876.6:c.298_423+108del
ENST00000442311.1:c.208_333+108del
NM_015166.3:c.298_423+108del
NM_139202.2:c.298_423+108del
XM_011530678.1:c.298_423+108del
XR_430476.2:n.693_818+108del
XM_011530678.2:c.298_423+108del
XM_017028671.1:c.298_423+108del
XR_001755180.2:n.803_928+108del
XR_001755181.2:n.571_696+108del
NM_001376472.1:c.298_423+108del
NM_001376473.1:c.298_423+108del
NM_001376474.1:c.298_423+108del
NM_001376475.1:c.298_423+108del
NM_001376476.1:c.298_423+108del
NM_001376477.1:c.298_423+108del
NM_001376478.1:c.298_423+108del
NM_001376479.1:c.298_423+108del
NM_001376480.1:c.208_333+108del
NM_001376481.1:c.298_321+534del
NM_001376482.1:c.267+2717_268-2308del	NP_001363411.1:n.267+2717_268-2308del
NM_001376483.1:c.267+2717_268-2308del	NP_001363412.1:n.267+2717_268-2308del
NM_001376484.1:c.61_186+108del
NM_015166.4:c.298_423+108del
NM_139202.3:c.298_423+108del
NR_164811.1:n.645_770+108del
NR_164812.1:n.429_554+108del
NR_164813.1:n.822_947+108del