Canonical Allele Identifier: CA2631964371

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16165661-CCACA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16165662_16165665del , CM000678.2:g.16165662_16165665del	GRCh38
NC_000016.9:g.16259519_16259522del , CM000678.1:g.16259519_16259522del	GRCh37
NC_000016.8:g.16167020_16167023del	NCBI36
NG_007558.2:g.62807_62810del
NG_007558.3:g.62953_62956del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3264_3267del	ENSP00000483331.2:p.Val1089ProfsTer23
ENST00000205557.12:c.3264_3267del MANE Select	ENSP00000205557.7:p.Val1089ProfsTer23
ENST00000640696.1:c.278_281del	ENSP00000492197.1:p.Leu93ArgfsTer?
ENST00000205557.11:c.3264_3267del	ENSP00000205557.7:p.Val1089ProfsTer23
ENST00000456970.6:c.3089_3092del	ENSP00000405002.2:n.3089_3092del
ENST00000622290.4:c.*473_*476del	ENSP00000483331.1:n.*473_*476del
NM_001171.5:c.3264_3267del	NP_001162.4:p.Val1089ProfsTer23
XM_011522479.1:c.3231_3234del	XP_011520781.1:p.Val1078ProfsTer23
XM_011522480.1:c.2922_2925del	XP_011520782.1:p.Val975ProfsTer23
XM_011522481.1:c.2922_2925del	XP_011520783.1:p.Val975ProfsTer23
XR_932836.1:n.3499_3502del
XR_932837.1:n.3500_3503del
XR_932838.1:n.3500_3503del
NM_001351800.1:c.2922_2925del	NP_001338729.1:p.Val975ProfsTer23
NR_147784.1:n.3126_3129del
XM_011522479.2:c.3231_3234del	XP_011520781.1:p.Val1078ProfsTer23
XM_011522481.3:c.2922_2925del	XP_011520783.1:p.Val975ProfsTer23
XM_017023212.1:c.3096_3099del	XP_016878701.1:p.Val1033ProfsTer23
XM_017023214.1:c.3264_3267del	XP_016878703.1:p.Val1089ProfsTer?
XM_024450261.1:c.3300_3303del	XP_024306029.1:p.Val1101ProfsTer23
XR_932836.2:n.3445_3448del
XR_932837.3:n.3445_3448del
XR_932838.3:n.3445_3448del
NM_001171.6:c.3264_3267del MANE Select	NP_001162.5:p.Val1089ProfsTer23