Canonical Allele Identifier: CA2631970260

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16173238-AGGTGGCAGCAGTGGGTGGGGAGGGGTGGGTGAAGCTGGTGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16173239_16173279del , CM000678.2:g.16173239_16173279del	GRCh38
NC_000016.9:g.16267096_16267136del , CM000678.1:g.16267096_16267136del	GRCh37
NC_000016.8:g.16174597_16174637del	NCBI36
NG_007558.2:g.55193_55233del
NG_007558.3:g.55339_55379del

Transcript Alleles

HGVS	Amino-acid change
ENST00000622290.5:c.2787+5_2787+45del	ENSP00000483331.2:n.2787+5_2787+45del
ENST00000205557.12:c.2787+5_2787+45del MANE Select	ENSP00000205557.7:n.2787+5_2787+45del
ENST00000205557.11:c.2787+5_2787+45del	ENSP00000205557.7:n.2787+5_2787+45del
ENST00000456970.6:c.2612+5_2612+45del	ENSP00000405002.2:n.2612+5_2612+45del
ENST00000576683.1:n.279_319del
ENST00000622290.4:c.2612+5_2612+45del	ENSP00000483331.1:n.2612+5_2612+45del
NM_001171.5:c.2787+5_2787+45del	NP_001162.4:n.2787+5_2787+45del
XM_011522479.1:c.2754+5_2754+45del	XP_011520781.1:n.2754+5_2754+45del
XM_011522480.1:c.2445+5_2445+45del	XP_011520782.1:n.2445+5_2445+45del
XM_011522481.1:c.2445+5_2445+45del	XP_011520783.1:n.2445+5_2445+45del
XR_932836.1:n.3022+5_3022+45del
XR_932837.1:n.3023+5_3023+45del
XR_932838.1:n.3023+5_3023+45del
NM_001351800.1:c.2445+5_2445+45del	NP_001338729.1:n.2445+5_2445+45del
NR_147784.1:n.2649+5_2649+45del
XM_011522479.2:c.2754+5_2754+45del	XP_011520781.1:n.2754+5_2754+45del
XM_011522481.3:c.2445+5_2445+45del	XP_011520783.1:n.2445+5_2445+45del
XM_017023212.1:c.2619+5_2619+45del	XP_016878701.1:n.2619+5_2619+45del
XM_017023214.1:c.2787+5_2787+45del	XP_016878703.1:n.2787+5_2787+45del
XM_024450261.1:c.2823+5_2823+45del	XP_024306029.1:n.2823+5_2823+45del
XR_932836.2:n.2968+5_2968+45del
XR_932837.3:n.2968+5_2968+45del
XR_932838.3:n.2968+5_2968+45del
NM_001171.6:c.2787+5_2787+45del MANE Select	NP_001162.5:n.2787+5_2787+45del