Canonical Allele Identifier: CA624016591
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs1250211414
gnomAD v2: 16-81388356-GA-G
gnomAD v4: 16-81354751-GA-G
MyVariant Identifiers: chr16:g.81388357del (hg19) chr16:g.81354752del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354754del , CM000678.2:g.81354754del GRCh38
NC_000016.9:g.81388359del , CM000678.1:g.81388359del GRCh37
NC_000016.8:g.79945860del NCBI36
NG_009007.1:g.44789del , LRG_242:g.44789del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*340del ENSP00000498114.1:n.*340del
ENST00000648994.2:c.632del MANE Select ENSP00000497351.1:p.Lys211ArgfsTer4
ENST00000650388.1:c.168-2031del ENSP00000498081.1:n.168-2031del
ENST00000674788.1:n.757del
ENST00000568107.2:c.632del ENSP00000476795.1:p.Lys211ArgfsTer4
NM_022041.3:c.632del , LRG_242t1:c.632del NP_071324.1:p.Lys211ArgfsTer4
XM_017023734.1:c.-8del XP_016879223.1:n.-8del
NM_001377486.1:c.-8del NP_001364415.1:n.-8del
NM_022041.4:c.632del MANE Select NP_071324.1:p.Lys211ArgfsTer4
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