Canonical Allele Identifier: CA2610797769

Gene: COL17A1

Linked Data

• gnomAD v4: 10-104053181-AGCTAACG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104053185_104053191del , CM000672.2:g.104053185_104053191del	GRCh38
NC_000010.10:g.105812943_105812949del , CM000672.1:g.105812943_105812949del	GRCh37
NC_000010.9:g.105802933_105802939del	NCBI36
NG_007069.1:g.37693_37699del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.1835-53_1835-47del	ENSP00000358748.3:n.1835-53_1835-47del
ENST00000648076.2:c.1835-53_1835-47del MANE Select	ENSP00000497653.1:n.1835-53_1835-47del
ENST00000650263.1:c.1787-53_1787-47del	ENSP00000497850.1:n.1787-53_1787-47del
ENST00000353479.9:c.1835-53_1835-47del	ENSP00000340937.5:n.1835-53_1835-47del
ENST00000369733.7:c.1835-53_1835-47del	ENSP00000358748.3:n.1835-53_1835-47del
NM_000494.3:c.1835-53_1835-47del	NP_000485.3:n.1835-53_1835-47del
NM_000494.4:c.1835-53_1835-47del MANE Select	NP_000485.3:n.1835-53_1835-47del