Canonical Allele Identifier: CA2573320563
Gene: B3GALT6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1232476_1232477insGC , CM000663.2:g.1232476_1232477insGC GRCh38
NC_000001.10:g.1167856_1167857insGC , CM000663.1:g.1167856_1167857insGC GRCh37
NC_000001.9:g.1157719_1157720insGC NCBI36
NG_030007.1:g.4591_4592insGC
NG_033265.1:g.5228_5229insGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000379198.5:c.198_199insGC MANE Select ENSP00000368496.2:p.Pro67AlafsTer10
ENST00000379198.3:c.198_199insGC ENSP00000368496.2:p.Pro67AlafsTer10
NM_080605.3:c.198_199insGC NP_542172.2:p.Pro67AlafsTer10
NM_080605.4:c.198_199insGC MANE Select NP_542172.2:p.Pro67AlafsTer10
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