Canonical Allele Identifier: CA975111407

Gene: ABCC6

Linked Data

• dbSNP Id: rs2046369641
• gnomAD v3: 16-16150917-T-TGGTCTGC
• gnomAD v4: 16-16150917-T-TGGTCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16150918_16150924dup , CM000678.2:g.16150918_16150924dup	GRCh38
NC_000016.9:g.16244775_16244781dup , CM000678.1:g.16244775_16244781dup	GRCh37
NC_000016.8:g.16152276_16152282dup	NCBI36
NG_007558.2:g.77548_77554dup
NG_007558.3:g.77694_77700dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*381-152_*381-146dup	ENSP00000483331.2:n.*381-152_*381-146dup
ENST00000205557.12:c.4209-152_4209-146dup MANE Select	ENSP00000205557.7:n.4209-152_4209-146dup
ENST00000640696.1:c.1023-152_1023-146dup	ENSP00000492197.1:n.1023-152_1023-146dup
ENST00000205557.11:c.4209-152_4209-146dup	ENSP00000205557.7:n.4209-152_4209-146dup
ENST00000456970.6:c.3834-152_3834-146dup	ENSP00000405002.2:n.3834-152_3834-146dup
ENST00000576204.5:n.1072-152_1072-146dup
ENST00000622290.4:c.*1418-152_*1418-146dup	ENSP00000483331.1:n.*1418-152_*1418-146dup
NM_001171.5:c.4209-152_4209-146dup	NP_001162.4:n.4209-152_4209-146dup
XM_011522479.1:c.4176-152_4176-146dup	XP_011520781.1:n.4176-152_4176-146dup
XM_011522480.1:c.3867-152_3867-146dup	XP_011520782.1:n.3867-152_3867-146dup
XM_011522481.1:c.3867-152_3867-146dup	XP_011520783.1:n.3867-152_3867-146dup
XR_933134.1:n.538+6628_538+6634dup
NM_001351800.1:c.3867-152_3867-146dup	NP_001338729.1:n.3867-152_3867-146dup
NR_147784.1:n.3871-152_3871-146dup
XM_011522479.2:c.4176-152_4176-146dup	XP_011520781.1:n.4176-152_4176-146dup
XM_011522481.3:c.3867-152_3867-146dup	XP_011520783.1:n.3867-152_3867-146dup
XM_017023212.1:c.4041-152_4041-146dup	XP_016878701.1:n.4041-152_4041-146dup
XM_024450261.1:c.4245-152_4245-146dup	XP_024306029.1:n.4245-152_4245-146dup
NM_001171.6:c.4209-152_4209-146dup MANE Select	NP_001162.5:n.4209-152_4209-146dup