Canonical Allele Identifier: CA2631958602

Gene: ABCC6

Linked Data

• gnomAD v4: 16-16154522-AGTGATAATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154523_16154531del , CM000678.2:g.16154523_16154531del	GRCh38
NC_000016.9:g.16248380_16248388del , CM000678.1:g.16248380_16248388del	GRCh37
NC_000016.8:g.16155881_16155889del	NCBI36
NG_007558.2:g.73941_73949del
NG_007558.3:g.74087_74095del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*380+97_*380+105del	ENSP00000483331.2:n.*380+97_*380+105del
ENST00000205557.12:c.4208+97_4208+105del MANE Select	ENSP00000205557.7:n.4208+97_4208+105del
ENST00000640696.1:c.1022+97_1022+105del	ENSP00000492197.1:n.1022+97_1022+105del
ENST00000205557.11:c.4208+97_4208+105del	ENSP00000205557.7:n.4208+97_4208+105del
ENST00000456970.6:c.3833+97_3833+105del	ENSP00000405002.2:n.3833+97_3833+105del
ENST00000576204.5:n.1071+97_1071+105del
ENST00000622290.4:c.*1417+97_*1417+105del	ENSP00000483331.1:n.*1417+97_*1417+105del
NM_001171.5:c.4208+97_4208+105del	NP_001162.4:n.4208+97_4208+105del
XM_011522479.1:c.4175+97_4175+105del	XP_011520781.1:n.4175+97_4175+105del
XM_011522480.1:c.3866+97_3866+105del	XP_011520782.1:n.3866+97_3866+105del
XM_011522481.1:c.3866+97_3866+105del	XP_011520783.1:n.3866+97_3866+105del
XR_933134.1:n.539-5258_539-5250del
NM_001351800.1:c.3866+97_3866+105del	NP_001338729.1:n.3866+97_3866+105del
NR_147784.1:n.3870+97_3870+105del
XM_011522479.2:c.4175+97_4175+105del	XP_011520781.1:n.4175+97_4175+105del
XM_011522481.3:c.3866+97_3866+105del	XP_011520783.1:n.3866+97_3866+105del
XM_017023212.1:c.4040+97_4040+105del	XP_016878701.1:n.4040+97_4040+105del
XM_024450261.1:c.4244+97_4244+105del	XP_024306029.1:n.4244+97_4244+105del
NM_001171.6:c.4208+97_4208+105del MANE Select	NP_001162.5:n.4208+97_4208+105del