Canonical Allele Identifier: CA1337617515
Gene: COL6A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.237359405_237359406delinsTA , CM000664.2:g.237359405_237359406delinsTA GRCh38
NC_000002.11:g.238268048_238268049delinsTA , CM000664.1:g.238268048_238268049delinsTA GRCh37
NC_000002.10:g.237932787_237932788delinsTA NCBI36
NG_008676.1:g.59802_59803delinsTA , LRG_473:g.59802_59803delinsTA

Transcript Alleles

HGVS Amino-acid change
ENST00000353578.9:c.5665-18_5665-17delinsTA ENSP00000315873.4:n.5665-18_5665-17delinsTA
ENST00000295550.9:c.6283-18_6283-17delinsTA MANE Select ENSP00000295550.4:n.6283-18_6283-17delinsTA
ENST00000295550.8:c.6283-18_6283-17delinsTA ENSP00000295550.4:n.6283-18_6283-17delinsTA
ENST00000347401.7:c.4462-18_4462-17delinsTA ENSP00000315609.4:n.4462-18_4462-17delinsTA
ENST00000353578.8:c.5665-18_5665-17delinsTA ENSP00000315873.4:n.5665-18_5665-17delinsTA
ENST00000409809.5:c.5665-18_5665-17delinsTA ENSP00000386844.1:n.5665-18_5665-17delinsTA
ENST00000472056.5:c.4462-18_4462-17delinsTA ENSP00000418285.1:n.4462-18_4462-17delinsTA
NM_004369.3:c.6283-18_6283-17delinsTA , LRG_473t1:c.6283-18_6283-17delinsTA NP_004360.2:n.6283-18_6283-17delinsTA
NM_057166.4:c.4462-18_4462-17delinsTA NP_476507.3:n.4462-18_4462-17delinsTA
NM_057167.3:c.5665-18_5665-17delinsTA NP_476508.2:n.5665-18_5665-17delinsTA
XM_005246065.1:c.5683-18_5683-17delinsTA XP_005246122.1:n.5683-18_5683-17delinsTA
XM_005246066.1:c.5062-18_5062-17delinsTA XP_005246123.1:n.5062-18_5062-17delinsTA
XM_006712253.1:c.5782-18_5782-17delinsTA XP_006712316.1:n.5782-18_5782-17delinsTA
XM_011510574.1:c.6280-18_6280-17delinsTA XP_011508876.1:n.6280-18_6280-17delinsTA
XM_011510575.1:c.3877-18_3877-17delinsTA XP_011508877.1:n.3877-18_3877-17delinsTA
XM_017003304.1:c.3877-18_3877-17delinsTA XP_016858793.1:n.3877-18_3877-17delinsTA
XM_024452684.1:c.5062-18_5062-17delinsTA XP_024308452.1:n.5062-18_5062-17delinsTA
NM_004369.4:c.6283-18_6283-17delinsTA MANE Select NP_004360.2:n.6283-18_6283-17delinsTA
NM_057166.5:c.4462-18_4462-17delinsTA NP_476507.3:n.4462-18_4462-17delinsTA
NM_057167.4:c.5665-18_5665-17delinsTA NP_476508.2:n.5665-18_5665-17delinsTA