Canonical Allele Identifier: CA975111404

Gene: ABCC6

Linked Data

• dbSNP Id: rs2046369355
• gnomAD v3: 16-16150910-G-GGGTCTGT
• gnomAD v4: 16-16150910-G-GGGTCTGT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150917_16150923dup , CM000678.2:g.16150917_16150923dup	GRCh38
NC_000016.9:g.16244774_16244780dup , CM000678.1:g.16244774_16244780dup	GRCh37
NC_000016.8:g.16152275_16152281dup	NCBI36
NG_007558.2:g.77555_77561dup
NG_007558.3:g.77701_77707dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*381-145_*381-139dup	ENSP00000483331.2:n.*381-145_*381-139dup
ENST00000205557.12:c.4209-145_4209-139dup MANE Select	ENSP00000205557.7:n.4209-145_4209-139dup
ENST00000640696.1:c.1023-145_1023-139dup	ENSP00000492197.1:n.1023-145_1023-139dup
ENST00000205557.11:c.4209-145_4209-139dup	ENSP00000205557.7:n.4209-145_4209-139dup
ENST00000456970.6:c.3834-145_3834-139dup	ENSP00000405002.2:n.3834-145_3834-139dup
ENST00000576204.5:n.1072-145_1072-139dup
ENST00000622290.4:c.*1418-145_*1418-139dup	ENSP00000483331.1:n.*1418-145_*1418-139dup
NM_001171.5:c.4209-145_4209-139dup	NP_001162.4:n.4209-145_4209-139dup
XM_011522479.1:c.4176-145_4176-139dup	XP_011520781.1:n.4176-145_4176-139dup
XM_011522480.1:c.3867-145_3867-139dup	XP_011520782.1:n.3867-145_3867-139dup
XM_011522481.1:c.3867-145_3867-139dup	XP_011520783.1:n.3867-145_3867-139dup
XR_933134.1:n.538+6627_538+6633dup
NM_001351800.1:c.3867-145_3867-139dup	NP_001338729.1:n.3867-145_3867-139dup
NR_147784.1:n.3871-145_3871-139dup
XM_011522479.2:c.4176-145_4176-139dup	XP_011520781.1:n.4176-145_4176-139dup
XM_011522481.3:c.3867-145_3867-139dup	XP_011520783.1:n.3867-145_3867-139dup
XM_017023212.1:c.4041-145_4041-139dup	XP_016878701.1:n.4041-145_4041-139dup
XM_024450261.1:c.4245-145_4245-139dup	XP_024306029.1:n.4245-145_4245-139dup
NM_001171.6:c.4209-145_4209-139dup MANE Select	NP_001162.5:n.4209-145_4209-139dup