Canonical Allele Identifier: CA621656912

Gene: ABCC6

Linked Data

• dbSNP Id: rs1408409341
• gnomAD v2: 16-16248713-CCCT-C
• gnomAD v3: 16-16154856-CCCT-C
• gnomAD v4: 16-16154856-CCCT-C
• MyVariant Identifiers: chr16:g.16248714_16248716del (hg19) ; chr16:g.16154857_16154859del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154859_16154861del , CM000678.2:g.16154859_16154861del	GRCh38
NC_000016.9:g.16248716_16248718del , CM000678.1:g.16248716_16248718del	GRCh37
NC_000016.8:g.16156217_16156219del	NCBI36
NG_007558.2:g.73613_73615del
NG_007558.3:g.73759_73761del

Transcript Alleles

HGVS	Amino-acid change
ENST00000576204.6:n.904+14_904+16del
ENST00000622290.5:c.*213+14_*213+16del	ENSP00000483331.2:n.*213+14_*213+16del
ENST00000205557.12:c.4041+14_4041+16del MANE Select	ENSP00000205557.7:n.4041+14_4041+16del
ENST00000640696.1:c.855+14_855+16del	ENSP00000492197.1:n.855+14_855+16del
ENST00000205557.11:c.4041+14_4041+16del	ENSP00000205557.7:n.4041+14_4041+16del
ENST00000456970.6:c.3666+14_3666+16del	ENSP00000405002.2:n.3666+14_3666+16del
ENST00000576204.5:n.904+14_904+16del
ENST00000622290.4:c.*1250+14_*1250+16del	ENSP00000483331.1:n.*1250+14_*1250+16del
NM_001171.5:c.4041+14_4041+16del	NP_001162.4:n.4041+14_4041+16del
XM_011522479.1:c.4008+14_4008+16del	XP_011520781.1:n.4008+14_4008+16del
XM_011522480.1:c.3699+14_3699+16del	XP_011520782.1:n.3699+14_3699+16del
XM_011522481.1:c.3699+14_3699+16del	XP_011520783.1:n.3699+14_3699+16del
XR_933134.1:n.539-4922_539-4920del
NM_001351800.1:c.3699+14_3699+16del	NP_001338729.1:n.3699+14_3699+16del
NR_147784.1:n.3703+14_3703+16del
XM_011522479.2:c.4008+14_4008+16del	XP_011520781.1:n.4008+14_4008+16del
XM_011522481.3:c.3699+14_3699+16del	XP_011520783.1:n.3699+14_3699+16del
XM_017023212.1:c.3873+14_3873+16del	XP_016878701.1:n.3873+14_3873+16del
XM_024450261.1:c.4077+14_4077+16del	XP_024306029.1:n.4077+14_4077+16del
NM_001171.6:c.4041+14_4041+16del MANE Select	NP_001162.5:n.4041+14_4041+16del