Canonical Allele Identifier: CA2319057291
Gene: MATK HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3797202_3797203delinsAT , CM000681.2:g.3797202_3797203delinsAT GRCh38
NC_000019.9:g.3797200_3797201delinsAT , CM000681.1:g.3797200_3797201delinsAT GRCh37
NC_000019.8:g.3748200_3748201delinsAT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000395045.6:c.-58+4329_-58+4330delinsAT ENSP00000378485.1:n.-58+4329_-58+4330delinsAT
ENST00000590821.1:n.271+4329_271+4330delinsAT
ENST00000590849.1:c.-52+4329_-52+4330delinsAT ENSP00000467992.1:n.-52+4329_-52+4330delinsAT
ENST00000590980.1:c.-58+4329_-58+4330delinsAT ENSP00000467472.1:n.-58+4329_-58+4330delinsAT
ENST00000592300.1:n.273-3802_273-3801delinsAT
ENST00000592612.1:n.251-3805_251-3804delinsAT
NM_002378.3:c.-58+4329_-58+4330delinsAT NP_002369.2:n.-58+4329_-58+4330delinsAT
XM_011528019.1:c.-58+4329_-58+4330delinsAT XP_011526321.1:n.-58+4329_-58+4330delinsAT
NM_002378.4:c.-58+4329_-58+4330delinsAT NP_002369.2:n.-58+4329_-58+4330delinsAT
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