Canonical Allele Identifier: CA2678127925

Gene: AGER

Linked Data

• gnomAD v4: 6-32182099-GGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32182101_32182102del , CM000668.2:g.32182101_32182102del	GRCh38
NC_000006.11:g.32149878_32149879del , CM000668.1:g.32149878_32149879del	GRCh37
NC_000006.10:g.32257856_32257857del	NCBI36
NG_029868.1:g.7222_7223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375076.9:c.964+146_964+147del MANE Select	ENSP00000364217.4:n.964+146_964+147del
ENST00000375055.6:c.964+146_964+147del	ENSP00000364195.2:n.964+146_964+147del
ENST00000375065.6:c.151+146_151+147del	ENSP00000364206.6:n.151+146_151+147del
ENST00000375067.7:c.809+438_809+439del	ENSP00000364208.3:n.809+438_809+439del
ENST00000375069.7:c.1012+146_1012+147del	ENSP00000364210.4:n.1012+146_1012+147del
ENST00000375070.7:c.661+146_661+147del	ENSP00000364211.4:n.661+146_661+147del
ENST00000375076.8:c.964+146_964+147del	ENSP00000364217.4:n.964+146_964+147del
ENST00000438221.6:c.1012+146_1012+147del	ENSP00000387887.2:n.1012+146_1012+147del
ENST00000473619.5:n.506+146_506+147del
ENST00000484849.5:n.1171+146_1171+147del
ENST00000488669.5:n.506+146_506+147del
ENST00000620802.4:c.283-668_283-667del	ENSP00000484081.1:n.283-668_283-667del
NM_001136.4:c.964+146_964+147del	NP_001127.1:n.964+146_964+147del
NM_001206929.1:c.1012+146_1012+147del	NP_001193858.1:n.1012+146_1012+147del
NM_001206932.1:c.922+146_922+147del	NP_001193861.1:n.922+146_922+147del
NM_001206934.1:c.1012+146_1012+147del	NP_001193863.1:n.1012+146_1012+147del
NM_001206936.1:c.912+146_912+147del	NP_001193865.1:n.912+146_912+147del
NM_001206940.1:c.964+146_964+147del	NP_001193869.1:n.964+146_964+147del
NM_001206954.1:c.822+467_823-468del	NP_001193883.1:n.822+467_823-468del
NM_001206966.1:c.964+146_964+147del	NP_001193895.1:n.964+146_964+147del
NM_172197.2:c.809+438_809+439del	NP_751947.1:n.809+438_809+439del
NR_038190.1:n.1247+146_1247+147del
XM_017010328.2:c.963+467_964-468del	XP_016865817.1:n.963+467_964-468del
XR_001743189.2:n.1028+467_1029-468del
XR_001743190.2:n.980+467_981-468del
NM_001136.5:c.964+146_964+147del MANE Select	NP_001127.1:n.964+146_964+147del
NM_001206932.2:c.922+146_922+147del	NP_001193861.1:n.922+146_922+147del
NM_001206936.2:c.912+146_912+147del	NP_001193865.1:n.912+146_912+147del
NM_001206940.2:c.964+146_964+147del	NP_001193869.1:n.964+146_964+147del
NM_001206954.2:c.822+467_823-468del	NP_001193883.1:n.822+467_823-468del
NM_001206966.2:c.964+146_964+147del	NP_001193895.1:n.964+146_964+147del
NM_172197.3:c.809+438_809+439del	NP_751947.1:n.809+438_809+439del
NR_038190.2:n.1178+146_1178+147del
NM_001206929.2:c.1012+146_1012+147del	NP_001193858.1:n.1012+146_1012+147del
NM_001206934.2:c.1012+146_1012+147del	NP_001193863.1:n.1012+146_1012+147del