Canonical Allele Identifier: CA624016689

Gene: GAN

Linked Data

• dbSNP Id: rs1394471839
• gnomAD v2: 16-81348943-G-GCGGC
• gnomAD v3: 16-81315338-G-GCGGC
• gnomAD v4: 16-81315338-G-GCGGC
• MyVariant Identifiers: chr16:g.81348943_81348944insCGGC (hg19) ; chr16:g.81315338_81315339insCGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81315342_81315345dup , CM000678.2:g.81315342_81315345dup	GRCh38
NC_000016.9:g.81348947_81348950dup , CM000678.1:g.81348947_81348950dup	GRCh37
NC_000016.8:g.79906448_79906451dup	NCBI36
NG_009007.1:g.5377_5380dup , LRG_242:g.5377_5380dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.167+62_167+65dup	ENSP00000498114.1:n.167+62_167+65dup
ENST00000648994.2:c.167+62_167+65dup MANE Select	ENSP00000497351.1:n.167+62_167+65dup
ENST00000650388.1:c.167+62_167+65dup	ENSP00000498081.1:n.167+62_167+65dup
ENST00000674788.1:n.292+62_292+65dup
ENST00000568107.2:c.167+62_167+65dup	ENSP00000476795.1:n.167+62_167+65dup
NM_022041.3:c.167+62_167+65dup , LRG_242t1:c.167+62_167+65dup	NP_071324.1:n.167+62_167+65dup
XM_017023734.1:c.-358+62_-358+65dup	XP_016879223.1:n.-358+62_-358+65dup
NM_001377486.1:c.-358+62_-358+65dup	NP_001364415.1:n.-358+62_-358+65dup
NM_022041.4:c.167+62_167+65dup MANE Select	NP_071324.1:n.167+62_167+65dup