Canonical Allele Identifier: CA1672406027
Gene: IYD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.150398686_150398689delinsCTTT , CM000668.2:g.150398686_150398689delinsCTTT GRCh38
NC_000006.11:g.150719822_150719825delinsCTTT , CM000668.1:g.150719822_150719825delinsCTTT GRCh37
NC_000006.10:g.150761515_150761518delinsCTTT NCBI36
NG_016007.1:g.34795_34798delinsCTTT
NG_016007.2:g.34795_34798delinsCTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000344419.8:c.*449_*452delinsCTTT MANE Select ENSP00000343763.4:n.*449_*452delinsCTTT
ENST00000229447.9:c.*549_*552delinsCTTT ENSP00000229447.5:n.*549_*552delinsCTTT
ENST00000344419.7:c.*449_*452delinsCTTT ENSP00000343763.3:n.*449_*452delinsCTTT
NM_001164694.1:c.*549_*552delinsCTTT NP_001158166.1:n.*549_*552delinsCTTT
NM_001164695.1:c.*636_*639delinsCTTT NP_001158167.1:n.*636_*639delinsCTTT
NM_203395.2:c.*449_*452delinsCTTT NP_981932.1:n.*449_*452delinsCTTT
NM_001318495.1:c.*449_*452delinsCTTT NP_001305424.1:n.*449_*452delinsCTTT
NR_134655.1:n.1632_1635delinsCTTT
NM_001164694.2:c.*549_*552delinsCTTT NP_001158166.1:n.*549_*552delinsCTTT
NM_001164695.2:c.*636_*639delinsCTTT NP_001158167.1:n.*636_*639delinsCTTT
NM_001318495.2:c.*449_*452delinsCTTT NP_001305424.1:n.*449_*452delinsCTTT
NM_203395.3:c.*449_*452delinsCTTT MANE Select NP_981932.1:n.*449_*452delinsCTTT
NR_134655.2:n.1512_1515delinsCTTT