Canonical Allele Identifier: CA623755726

Gene: GAN

Linked Data

• dbSNP Id: rs1251165372
• gnomAD v2: 16-81391644-TAC-T
• gnomAD v3: 16-81358039-TAC-T
• gnomAD v4: 16-81358039-TAC-T
• MyVariant Identifiers: chr16:g.81391645_81391646del (hg19) ; chr16:g.81358040_81358041del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81358041_81358042del , CM000678.2:g.81358041_81358042del	GRCh38
NC_000016.9:g.81391646_81391647del , CM000678.1:g.81391646_81391647del	GRCh37
NC_000016.8:g.79949147_79949148del	NCBI36
NG_009007.1:g.48076_48077del , LRG_242:g.48076_48077del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*681+110_*681+111del	ENSP00000498114.1:n.*681+110_*681+111del
ENST00000648994.2:c.973+110_973+111del MANE Select	ENSP00000497351.1:n.973+110_973+111del
ENST00000650388.1:c.507+110_507+111del	ENSP00000498081.1:n.507+110_507+111del
ENST00000568107.2:c.973+110_973+111del	ENSP00000476795.1:n.973+110_973+111del
NM_022041.3:c.973+110_973+111del , LRG_242t1:c.973+110_973+111del	NP_071324.1:n.973+110_973+111del
XM_017023734.1:c.334+110_334+111del	XP_016879223.1:n.334+110_334+111del
NM_001377486.1:c.334+110_334+111del	NP_001364415.1:n.334+110_334+111del
NM_022041.4:c.973+110_973+111del MANE Select	NP_071324.1:n.973+110_973+111del