Canonical Allele Identifier: CA2573130853
Gene: COL11A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.102888582_102888583delinsGG , CM000663.2:g.102888582_102888583delinsGG GRCh38
NC_000001.10:g.103354138_103354139delinsGG , CM000663.1:g.103354138_103354139delinsGG GRCh37
NC_000001.9:g.103126726_103126727delinsGG NCBI36
NG_008033.1:g.224914_224915delinsCC
NG_008033.2:g.224914_224915delinsCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000370096.9:c.4602_4603delinsCC MANE Select ENSP00000359114.3:p.Ser1535Pro
ENST00000353414.8:c.4485_4486delinsCC ENSP00000302551.6:p.Ser1496Pro
ENST00000358392.6:c.4638_4639delinsCC ENSP00000351163.2:p.Ser1547Pro
ENST00000370096.7:c.4602_4603delinsCC ENSP00000359114.3:p.Ser1535Pro
ENST00000512756.5:c.4254_4255delinsCC ENSP00000426533.1:p.Ser1419Pro
ENST00000635193.1:c.3936_3937delinsCC
NM_001190709.1:c.4485_4486delinsCC NP_001177638.1:p.Ser1496Pro
NM_001854.3:c.4602_4603delinsCC NP_001845.3:p.Ser1535Pro
NM_080629.2:c.4638_4639delinsCC NP_542196.2:p.Ser1547Pro
NM_080630.3:c.4254_4255delinsCC NP_542197.3:p.Ser1419Pro
XM_011540720.1:c.2835_2836delinsCC XP_011539022.1:p.Ser946Pro
XM_011540721.1:c.2190_2191delinsCC XP_011539023.1:p.Ser731Pro
NR_134980.1:n.4936_4937delinsCC
XM_017000334.1:c.4755_4756delinsCC XP_016855823.1:p.Ser1586Pro
XM_017000335.1:c.4749_4750delinsCC XP_016855824.1:p.Ser1584Pro
XM_017000337.1:c.3153_3154delinsCC XP_016855826.1:p.Ser1052Pro
NM_001854.4:c.4602_4603delinsCC MANE Select NP_001845.3:p.Ser1535Pro
NM_080630.4:c.4254_4255delinsCC NP_542197.3:p.Ser1419Pro
NR_134980.2:n.4962_4963delinsCC
NM_001190709.2:c.4485_4486delinsCC NP_001177638.1:p.Ser1496Pro
NM_080629.3:c.4638_4639delinsCC NP_542196.2:p.Ser1547Pro