Canonical Allele Identifier: CA624016597

Gene: GAN

Linked Data

• dbSNP Id: rs1278315135
• gnomAD v2: 16-81388395-TTTTA-T
• gnomAD v4: 16-81354790-TTTTA-T
• MyVariant Identifiers: chr16:g.81388396_81388399del (hg19) ; chr16:g.81354791_81354794del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354794_81354797del , CM000678.2:g.81354794_81354797del	GRCh38
NC_000016.9:g.81388399_81388402del , CM000678.1:g.81388399_81388402del	GRCh37
NC_000016.8:g.79945900_79945903del	NCBI36
NG_009007.1:g.44829_44832del , LRG_242:g.44829_44832del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*341+39_*341+42del	ENSP00000498114.1:n.*341+39_*341+42del
ENST00000648994.2:c.633+39_633+42del MANE Select	ENSP00000497351.1:n.633+39_633+42del
ENST00000650388.1:c.168-1991_168-1988del	ENSP00000498081.1:n.168-1991_168-1988del
ENST00000674788.1:n.797_800del
ENST00000568107.2:c.633+39_633+42del	ENSP00000476795.1:n.633+39_633+42del
NM_022041.3:c.633+39_633+42del , LRG_242t1:c.633+39_633+42del	NP_071324.1:n.633+39_633+42del
XM_017023734.1:c.-7+39_-7+42del	XP_016879223.1:n.-7+39_-7+42del
NM_001377486.1:c.-7+39_-7+42del	NP_001364415.1:n.-7+39_-7+42del
NM_022041.4:c.633+39_633+42del MANE Select	NP_071324.1:n.633+39_633+42del