Canonical Allele Identifier: CA304392093
Gene: MATK HGNC NCBI

Linked Data

dbSNP Id: rs142558357
gnomAD v2: 19-3796960-GTC-G
gnomAD v3: 19-3796962-GTC-G
gnomAD v4: 19-3796962-GTC-G
MyVariant Identifiers: chr19:g.3796963_3796964del (hg19) chr19:g.3796961_3796962del (hg19) chr19:g.3796965_3796966del (hg38) chr19:g.3796963_3796964del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3796976_3796977del , CM000681.2:g.3796976_3796977del GRCh38
NC_000019.9:g.3796974_3796975del , CM000681.1:g.3796974_3796975del GRCh37
NC_000019.8:g.3747974_3747975del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000395045.6:c.-58+4568_-58+4569del ENSP00000378485.1:n.-58+4568_-58+4569del
ENST00000590821.1:n.271+4568_271+4569del
ENST00000590849.1:c.-52+4568_-52+4569del ENSP00000467992.1:n.-52+4568_-52+4569del
ENST00000590980.1:c.-58+4568_-58+4569del ENSP00000467472.1:n.-58+4568_-58+4569del
ENST00000592300.1:n.273-3563_273-3562del
ENST00000592612.1:n.251-3566_251-3565del
NM_002378.3:c.-58+4568_-58+4569del NP_002369.2:n.-58+4568_-58+4569del
XM_011528019.1:c.-58+4568_-58+4569del XP_011526321.1:n.-58+4568_-58+4569del
NM_002378.4:c.-58+4568_-58+4569del NP_002369.2:n.-58+4568_-58+4569del
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