Canonical Allele Identifier: CA2673688576

Gene: C7

Linked Data

• gnomAD v4: 5-40964960-C-CAACA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.40964960_40964961insAACA , CM000667.2:g.40964960_40964961insAACA	GRCh38
NC_000005.9:g.40965062_40965063insAACA , CM000667.1:g.40965062_40965063insAACA	GRCh37
NC_000005.8:g.41000819_41000820insAACA	NCBI36
NG_011692.1:g.60464_60465insAACA , LRG_30:g.60464_60465insAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486779.2:n.674+87_674+88insAACA
ENST00000696333.1:c.1882+87_1882+88insAACA	ENSP00000512566.1:n.1882+87_1882+88insAACA
ENST00000696441.1:c.1882+87_1882+88insAACA	ENSP00000512631.1:n.1882+87_1882+88insAACA
ENST00000706664.1:n.1996+87_1996+88insAACA
ENST00000706666.1:n.1958+87_1958+88insAACA
ENST00000706667.1:n.2772+87_2772+88insAACA
ENST00000706668.1:n.2610+87_2610+88insAACA
ENST00000313164.10:c.1882+87_1882+88insAACA MANE Select	ENSP00000322061.9:n.1882+87_1882+88insAACA
ENST00000313164.9:c.1882+87_1882+88insAACA	ENSP00000322061.9:n.1882+87_1882+88insAACA
ENST00000486779.1:n.395+87_395+88insAACA
NM_000587.2:c.1882+87_1882+88insAACA , LRG_30t1:c.1882+87_1882+88insAACA	NP_000578.2:n.1882+87_1882+88insAACA
XM_011514122.1:c.1882+87_1882+88insAACA	XP_011512424.1:n.1882+87_1882+88insAACA
NM_000587.3:c.1882+87_1882+88insAACA	NP_000578.2:n.1882+87_1882+88insAACA
NM_000587.4:c.1882+87_1882+88insAACA MANE Select	NP_000578.2:n.1882+87_1882+88insAACA