Canonical Allele Identifier: CA724676743
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs1387274755
gnomAD v3: 16-81354793-TA-T
gnomAD v4: 16-81354793-TA-T
MyVariant Identifiers: chr16:g.81388399del (hg19) chr16:g.81354794del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354794del , CM000678.2:g.81354794del GRCh38
NC_000016.9:g.81388399del , CM000678.1:g.81388399del GRCh37
NC_000016.8:g.79945900del NCBI36
NG_009007.1:g.44829del , LRG_242:g.44829del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*341+39del ENSP00000498114.1:n.*341+39del
ENST00000648994.2:c.633+39del MANE Select ENSP00000497351.1:n.633+39del
ENST00000650388.1:c.168-1991del ENSP00000498081.1:n.168-1991del
ENST00000674788.1:n.797del
ENST00000568107.2:c.633+39del ENSP00000476795.1:n.633+39del
NM_022041.3:c.633+39del , LRG_242t1:c.633+39del NP_071324.1:n.633+39del
XM_017023734.1:c.-7+39del XP_016879223.1:n.-7+39del
NM_001377486.1:c.-7+39del NP_001364415.1:n.-7+39del
NM_022041.4:c.633+39del MANE Select NP_071324.1:n.633+39del
Search 100 bp 5'
Search 100 bp 3'