Canonical Allele Identifier: CA621656913

Gene: ABCC6

Linked Data

• dbSNP Id: rs1567465523
• gnomAD v2: 16-16248714-C-CCT
• gnomAD v4: 16-16154857-C-CCT
• MyVariant Identifiers: chr16:g.16248714_16248715insCT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154859_16154860dup , CM000678.2:g.16154859_16154860dup	GRCh38
NC_000016.9:g.16248716_16248717dup , CM000678.1:g.16248716_16248717dup	GRCh37
NC_000016.8:g.16156217_16156218dup	NCBI36
NG_007558.2:g.73613_73614dup
NG_007558.3:g.73759_73760dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.904+14_904+15dup
ENST00000622290.5:c.*213+14_*213+15dup	ENSP00000483331.2:n.*213+14_*213+15dup
ENST00000205557.12:c.4041+14_4041+15dup MANE Select	ENSP00000205557.7:n.4041+14_4041+15dup
ENST00000640696.1:c.855+14_855+15dup	ENSP00000492197.1:n.855+14_855+15dup
ENST00000205557.11:c.4041+14_4041+15dup	ENSP00000205557.7:n.4041+14_4041+15dup
ENST00000456970.6:c.3666+14_3666+15dup	ENSP00000405002.2:n.3666+14_3666+15dup
ENST00000576204.5:n.904+14_904+15dup
ENST00000622290.4:c.*1250+14_*1250+15dup	ENSP00000483331.1:n.*1250+14_*1250+15dup
NM_001171.5:c.4041+14_4041+15dup	NP_001162.4:n.4041+14_4041+15dup
XM_011522479.1:c.4008+14_4008+15dup	XP_011520781.1:n.4008+14_4008+15dup
XM_011522480.1:c.3699+14_3699+15dup	XP_011520782.1:n.3699+14_3699+15dup
XM_011522481.1:c.3699+14_3699+15dup	XP_011520783.1:n.3699+14_3699+15dup
XR_933134.1:n.539-4922_539-4921dup
NM_001351800.1:c.3699+14_3699+15dup	NP_001338729.1:n.3699+14_3699+15dup
NR_147784.1:n.3703+14_3703+15dup
XM_011522479.2:c.4008+14_4008+15dup	XP_011520781.1:n.4008+14_4008+15dup
XM_011522481.3:c.3699+14_3699+15dup	XP_011520783.1:n.3699+14_3699+15dup
XM_017023212.1:c.3873+14_3873+15dup	XP_016878701.1:n.3873+14_3873+15dup
XM_024450261.1:c.4077+14_4077+15dup	XP_024306029.1:n.4077+14_4077+15dup
NM_001171.6:c.4041+14_4041+15dup MANE Select	NP_001162.5:n.4041+14_4041+15dup