Canonical Allele Identifier: CA3737902

Gene: AGER

Linked Data

• dbSNP Id: rs757416925
• ExAC: 6:32149059 ACC / A
• gnomAD v2: 6-32149059-ACC-A
• gnomAD v3: 6-32181282-ACC-A
• gnomAD v4: 6-32181282-ACC-A
• MyVariant Identifiers: chr6:g.32149060_32149061del (hg19) ; chr6:g.32181283_32181284del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32181287_32181288del , CM000668.2:g.32181287_32181288del	GRCh38
NC_000006.11:g.32149064_32149065del , CM000668.1:g.32149064_32149065del	GRCh37
NC_000006.10:g.32257042_32257043del	NCBI36
NG_029868.1:g.8039_8040del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.1119-45_1119-44del MANE Select	ENSP00000364217.4:n.1119-45_1119-44del
ENST00000375055.6:c.*30-45_*30-44del	ENSP00000364195.2:n.*30-45_*30-44del
ENST00000375065.6:c.306-45_306-44del	ENSP00000364206.6:n.306-45_306-44del
ENST00000375067.7:c.964-45_964-44del	ENSP00000364208.3:n.964-45_964-44del
ENST00000375069.7:c.1167-45_1167-44del	ENSP00000364210.4:n.1167-45_1167-44del
ENST00000375070.7:c.789-45_789-44del	ENSP00000364211.4:n.789-45_789-44del
ENST00000375076.8:c.1119-45_1119-44del	ENSP00000364217.4:n.1119-45_1119-44del
ENST00000438221.6:c.*30-45_*30-44del	ENSP00000387887.2:n.*30-45_*30-44del
ENST00000469940.5:n.286-45_286-44del
ENST00000473619.5:n.661-45_661-44del
ENST00000484849.5:n.1326-45_1326-44del
ENST00000488669.5:n.616-45_616-44del
ENST00000620802.4:c.366-45_366-44del	ENSP00000484081.1:n.366-45_366-44del
NM_001136.4:c.1119-45_1119-44del	NP_001127.1:n.1119-45_1119-44del
NM_001206929.1:c.1167-45_1167-44del	NP_001193858.1:n.1167-45_1167-44del
NM_001206932.1:c.1077-45_1077-44del	NP_001193861.1:n.1077-45_1077-44del
NM_001206934.1:c.*30-45_*30-44del	NP_001193863.1:n.*30-45_*30-44del
NM_001206936.1:c.1022-45_1022-44del	NP_001193865.1:n.1022-45_1022-44del
NM_001206940.1:c.*30-45_*30-44del	NP_001193869.1:n.*30-45_*30-44del
NM_001206954.1:c.932-45_932-44del	NP_001193883.1:n.932-45_932-44del
NM_001206966.1:c.*30-143_*30-142del	NP_001193895.1:n.*30-143_*30-142del
NM_172197.2:c.964-45_964-44del	NP_751947.1:n.964-45_964-44del
NR_038190.1:n.1402-45_1402-44del
XM_017010328.2:c.1073-45_1073-44del	XP_016865817.1:n.1073-45_1073-44del
XR_001743189.2:n.1183-45_1183-44del
XR_001743190.2:n.1135-45_1135-44del
NM_001136.5:c.1119-45_1119-44del MANE Select	NP_001127.1:n.1119-45_1119-44del
NM_001206932.2:c.1077-45_1077-44del	NP_001193861.1:n.1077-45_1077-44del
NM_001206936.2:c.1022-45_1022-44del	NP_001193865.1:n.1022-45_1022-44del
NM_001206940.2:c.*30-45_*30-44del	NP_001193869.1:n.*30-45_*30-44del
NM_001206954.2:c.932-45_932-44del	NP_001193883.1:n.932-45_932-44del
NM_001206966.2:c.*30-143_*30-142del	NP_001193895.1:n.*30-143_*30-142del
NM_172197.3:c.964-45_964-44del	NP_751947.1:n.964-45_964-44del
NR_038190.2:n.1333-45_1333-44del
NM_001206929.2:c.1167-45_1167-44del	NP_001193858.1:n.1167-45_1167-44del
NM_001206934.2:c.*30-45_*30-44del	NP_001193863.1:n.*30-45_*30-44del