Canonical Allele Identifier: CA624016599

Gene: GAN

Linked Data

• dbSNP Id: rs1395027180
• gnomAD v2: 16-81388433-TTTC-T
• gnomAD v3: 16-81354828-TTTC-T
• gnomAD v4: 16-81354828-TTTC-T
• MyVariant Identifiers: chr16:g.81388434_81388436del (hg19) ; chr16:g.81354829_81354831del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354835_81354837del , CM000678.2:g.81354835_81354837del	GRCh38
NC_000016.9:g.81388440_81388442del , CM000678.1:g.81388440_81388442del	GRCh37
NC_000016.8:g.79945941_79945943del	NCBI36
NG_009007.1:g.44870_44872del , LRG_242:g.44870_44872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*341+80_*341+82del	ENSP00000498114.1:n.*341+80_*341+82del
ENST00000648994.2:c.633+80_633+82del MANE Select	ENSP00000497351.1:n.633+80_633+82del
ENST00000650388.1:c.168-1950_168-1948del	ENSP00000498081.1:n.168-1950_168-1948del
ENST00000674788.1:n.838_840del
ENST00000568107.2:c.633+80_633+82del	ENSP00000476795.1:n.633+80_633+82del
NM_022041.3:c.633+80_633+82del , LRG_242t1:c.633+80_633+82del	NP_071324.1:n.633+80_633+82del
XM_017023734.1:c.-7+80_-7+82del	XP_016879223.1:n.-7+80_-7+82del
NM_001377486.1:c.-7+80_-7+82del	NP_001364415.1:n.-7+80_-7+82del
NM_022041.4:c.633+80_633+82del MANE Select	NP_071324.1:n.633+80_633+82del