Canonical Allele Identifier: CA2665618874

Gene: COL7A1

Linked Data

• gnomAD v4: 3-48567842-TCTCCCTTCTCTCCATCAAGGCCACAGG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.48567851_48567877del , CM000665.2:g.48567851_48567877del	GRCh38
NC_000003.11:g.48605284_48605310del , CM000665.1:g.48605284_48605310del	GRCh37
NC_000003.10:g.48580288_48580314del	NCBI36
NG_007065.1:g.32384_32410del , LRG_286:g.32384_32410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681320.1:c.7898_7924del MANE Select	ENSP00000506558.1:p.Ala2633_Gly2641del
ENST00000328333.12:c.7898_7924del	ENSP00000332371.8:p.Ala2633_Gly2641del
ENST00000459756.5:n.721_747del
ENST00000487017.5:n.4537_4563del
NM_000094.3:c.7898_7924del , LRG_286t1:c.7898_7924del	NP_000085.1:p.Ala2633_Gly2641del
XM_011533336.1:c.7925_7951del	XP_011531638.1:p.Ala2642_Gly2650del
XM_011533337.1:c.7898_7924del	XP_011531639.1:p.Ala2633_Gly2641del
XM_011533338.1:c.7865_7891del	XP_011531640.1:p.Ala2622_Gly2630del
XR_940369.1:n.7961_7987del
XR_940370.1:n.7961_7987del
XR_940371.1:n.7961_7987del
XM_017005688.1:c.7838_7864del	XP_016861177.1:p.Ala2613_Gly2621del
XR_001740003.1:n.7934_7960del
XR_001740004.1:n.7934_7960del
XR_001740005.1:n.7934_7960del
NM_000094.4:c.7898_7924del MANE Select	NP_000085.1:p.Ala2633_Gly2641del