Canonical Allele Identifier: CA304392169
Gene: MATK HGNC NCBI

Linked Data

dbSNP Id: rs920342396
gnomAD v2: 19-3796993-ATCT-A
gnomAD v3: 19-3796995-ATCT-A
gnomAD v4: 19-3796995-ATCT-A
MyVariant Identifiers: chr19:g.3796994_3796996del (hg19) chr19:g.3796996_3796998del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3797000_3797002del , CM000681.2:g.3797000_3797002del GRCh38
NC_000019.9:g.3796998_3797000del , CM000681.1:g.3796998_3797000del GRCh37
NC_000019.8:g.3747998_3748000del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000395045.6:c.-58+4534_-58+4536del ENSP00000378485.1:n.-58+4534_-58+4536del
ENST00000590821.1:n.271+4534_271+4536del
ENST00000590849.1:c.-52+4534_-52+4536del ENSP00000467992.1:n.-52+4534_-52+4536del
ENST00000590980.1:c.-58+4534_-58+4536del ENSP00000467472.1:n.-58+4534_-58+4536del
ENST00000592300.1:n.273-3597_273-3595del
ENST00000592612.1:n.251-3600_251-3598del
NM_002378.3:c.-58+4534_-58+4536del NP_002369.2:n.-58+4534_-58+4536del
XM_011528019.1:c.-58+4534_-58+4536del XP_011526321.1:n.-58+4534_-58+4536del
NM_002378.4:c.-58+4534_-58+4536del NP_002369.2:n.-58+4534_-58+4536del
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