Canonical Allele Identifier: CA2610797596

Gene: COL17A1

Linked Data

• gnomAD v4: 10-104052945-AGACAGAGTGAAGGAGGGACGGGTGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104052953_104052978del , CM000672.2:g.104052953_104052978del	GRCh38
NC_000010.10:g.105812711_105812736del , CM000672.1:g.105812711_105812736del	GRCh37
NC_000010.9:g.105802701_105802726del	NCBI36
NG_007069.1:g.37910_37935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.1939+60_1939+85del	ENSP00000358748.3:n.1939+60_1939+85del
ENST00000648076.2:c.1939+60_1939+85del MANE Select	ENSP00000497653.1:n.1939+60_1939+85del
ENST00000353479.9:c.1939+60_1939+85del	ENSP00000340937.5:n.1939+60_1939+85del
ENST00000369733.7:c.1939+60_1939+85del	ENSP00000358748.3:n.1939+60_1939+85del
NM_000494.3:c.1939+60_1939+85del	NP_000485.3:n.1939+60_1939+85del
NM_000494.4:c.1939+60_1939+85del MANE Select	NP_000485.3:n.1939+60_1939+85del