Canonical Allele Identifier: CA2820657052

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.43950072_43950073insACA , CM000685.2:g.43950072_43950073insACA GRCh38
NC_000023.10:g.43809318_43809319insACA , CM000685.1:g.43809318_43809319insACA GRCh37
NC_000023.9:g.43694262_43694263insACA NCBI36
NG_009832.1:g.28603_28604insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000642620.1:c.175-47_175-46insTGT (NDP) MANE Select ENSP00000495972.1:n.175-47_175-46insTGT
ENST00000647044.1:c.175-47_175-46insTGT (NDP) ENSP00000495811.1:n.175-47_175-46insTGT
ENST00000378062.5:c.175-47_175-46insTGT (NDP) ENSP00000367301.5:n.175-47_175-46insTGT
ENST00000470584.1:n.219-47_219-46insTGT (NDP)
NM_000266.3:c.175-47_175-46insTGT (NDP) NP_000257.1:n.175-47_175-46insTGT
NR_046631.1:n.341_342insACA (NDP-AS1)
NM_000266.4:c.175-47_175-46insTGT (NDP) MANE Select NP_000257.1:n.175-47_175-46insTGT