Canonical Allele Identifier: CA9316395

Gene: COMP

Linked Data

• dbSNP Id: rs773226781
• ExAC: 19:18896737 TGGCCCCGCCCCCACCGCA / T
• gnomAD v2: 19-18896737-TGGCCCCGCCCCCACCGCA-T
• gnomAD v3: 19-18785927-TGGCCCCGCCCCCACCGCA-T
• gnomAD v4: 19-18785927-TGGCCCCGCCCCCACCGCA-T
• MyVariant Identifiers: chr19:g.18896738_18896755del (hg19) ; chr19:g.18785928_18785945del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785940_18785957del , CM000681.2:g.18785940_18785957del	GRCh38
NC_000019.9:g.18896750_18896767del , CM000681.1:g.18896750_18896767del	GRCh37
NC_000019.8:g.18757750_18757767del	NCBI36
NG_007070.1:g.10360_10377del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1489+20_1489+37del MANE Select	ENSP00000222271.2:n.1489+20_1489+37del
ENST00000222271.6:c.1489+20_1489+37del	ENSP00000222271.2:n.1489+20_1489+37del
ENST00000425807.1:c.1330+20_1330+37del	ENSP00000403792.1:n.1330+20_1330+37del
ENST00000542601.6:c.1390+20_1390+37del	ENSP00000439156.2:n.1390+20_1390+37del
NM_000095.2:c.1489+20_1489+37del	NP_000086.2:n.1489+20_1489+37del
NM_000095.3:c.1489+20_1489+37del MANE Select	NP_000086.2:n.1489+20_1489+37del