Canonical Allele Identifier: CA2610800859

Gene: COL17A1

Linked Data

• gnomAD v4: 10-104037853-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104037855_104037856del , CM000672.2:g.104037855_104037856del	GRCh38
NC_000010.10:g.105797613_105797614del , CM000672.1:g.105797613_105797614del	GRCh37
NC_000010.9:g.105787603_105787604del	NCBI36
NG_007069.1:g.53026_53027del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.2936-82_2936-81del	ENSP00000358748.3:n.2936-82_2936-81del
ENST00000648076.2:c.3071-82_3071-81del MANE Select	ENSP00000497653.1:n.3071-82_3071-81del
ENST00000353479.9:c.3071-82_3071-81del	ENSP00000340937.5:n.3071-82_3071-81del
ENST00000369733.7:c.2936-82_2936-81del	ENSP00000358748.3:n.2936-82_2936-81del
NM_000494.3:c.3071-82_3071-81del	NP_000485.3:n.3071-82_3071-81del
NM_000494.4:c.3071-82_3071-81del MANE Select	NP_000485.3:n.3071-82_3071-81del